Achondroplasia
•Download as PPTX, PDF•
5 likes•6,060 views
Achondroplasia is a genetic disorder and the most common cause of dwarfism. It is caused by a mutation in the FGFR3 gene which results in a change of the amino acid guanine being replaced by arginine. This mutation disrupts the bone growth plate resulting in disproportionately short stature with short arms and legs. There is no cure for achondroplasia but treatments can address related conditions and symptoms.
Report
Share
Report
Share
Recommended
Achondroplasia
What is achondroplasia, definition , etiology ,types of dwarfism , genetic background,clinical presentations ,history and clinical examination , differential diagnosis ,diagnostic tests ,radiological findings ,CT scan and MRI , Medical care and role of growth hormone ,Surgical care and consultation,
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
skeletal dysplasia ppt
This document summarizes imaging findings in skeletal dysplasias. It discusses over 20 different conditions classified into groups based on genetic and phenotypic characteristics. Key radiological features are provided for common dysplasias like achondroplasia and spondyloepiphyseal dysplasia. A skeletal survey approach is outlined to identify clues for diagnosis. Prenatal imaging and multidisciplinary evaluation are important for diagnosis and genetic counseling.
Achondroplasia
Achondroplasia is a type of dwarfism caused by a mutation in the FGFR3 gene, which regulates bone growth. It results in short limbs, an enlarged head, and limited joint movement. While it cannot be cured, treatment focuses on monitoring health, preventing complications, and alleviating symptoms like back pain and sleep apnea. People with achondroplasia can live normal lives through adaptations and with support from family and community.
Osteosarcoma
Osteosarcoma is a malignant bone tumor characterized by the production of osteoid bone. It is the second most common primary bone malignancy and occurs most often in the metaphysis of long bones in adolescents and young adults. The tumor may be conventional, presenting as osteoblastic, chondroblastic or fibroblastic subtypes, or may be a rare telangiectatic or well-differentiated variant. While the exact cause is unknown, risk factors include rapid bone growth, genetic conditions, radiation exposure and pre-existing bone diseases.
Skeletal Dysplasia made easy
This document summarizes several skeletal dysplasias that can be observed on prenatal ultrasound. It describes key features and prognosis for conditions including achondrogenesis, thanatophoric dysplasia, campomelic dysplasia, osteogenesis imperfecta, hypophosphatasia, asphyxiating thoracic dystrophy, diastrophic dysplasia, chondrodysplasia punctata, kniest dysplasia, isolated limb reduction, robert's syndrome, femur-fibula-ulna syndrome, holt-oram syndrome, thrombocytopenia absent radius syndrome, and cleidocranial dystosis. Many of these conditions are lethal, while others may
Developmental dysplasia hip
Developmental dysplasia of the hip (DDH) is a spectrum of hip disorders involving abnormal development of the femoral head and acetabulum. It ranges from instability where the femoral head can subluxate to full dislocation. Risk factors include ligamentous laxity and breech positioning. Ultrasound and x-rays are used to diagnose and monitor treatment, which may involve closed or open reduction depending on age, along with bracing or casting. The goal is early concentric reduction to prevent future hip degeneration.
Osteopetrosis
This document discusses osteopetrosis, also known as marble bone disease, which is a rare hereditary disorder characterized by defective osteoclast function that results in abnormally dense and brittle bones. There are two subtypes: infantile autosomal recessive osteopetrosis, which is more severe and often fatal in childhood, and autosomal dominant osteopetrosis, which is less severe and allows survival into adulthood. The document describes the clinical features, radiographic findings, differential diagnoses, and key features that distinguish osteopetrosis from similar conditions like pyknodysostosis and melorheostosis.
Recommended
Achondroplasia
What is achondroplasia, definition , etiology ,types of dwarfism , genetic background,clinical presentations ,history and clinical examination , differential diagnosis ,diagnostic tests ,radiological findings ,CT scan and MRI , Medical care and role of growth hormone ,Surgical care and consultation,
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
skeletal dysplasia ppt
This document summarizes imaging findings in skeletal dysplasias. It discusses over 20 different conditions classified into groups based on genetic and phenotypic characteristics. Key radiological features are provided for common dysplasias like achondroplasia and spondyloepiphyseal dysplasia. A skeletal survey approach is outlined to identify clues for diagnosis. Prenatal imaging and multidisciplinary evaluation are important for diagnosis and genetic counseling.
Achondroplasia
Achondroplasia is a type of dwarfism caused by a mutation in the FGFR3 gene, which regulates bone growth. It results in short limbs, an enlarged head, and limited joint movement. While it cannot be cured, treatment focuses on monitoring health, preventing complications, and alleviating symptoms like back pain and sleep apnea. People with achondroplasia can live normal lives through adaptations and with support from family and community.
Osteosarcoma
Osteosarcoma is a malignant bone tumor characterized by the production of osteoid bone. It is the second most common primary bone malignancy and occurs most often in the metaphysis of long bones in adolescents and young adults. The tumor may be conventional, presenting as osteoblastic, chondroblastic or fibroblastic subtypes, or may be a rare telangiectatic or well-differentiated variant. While the exact cause is unknown, risk factors include rapid bone growth, genetic conditions, radiation exposure and pre-existing bone diseases.
Skeletal Dysplasia made easy
This document summarizes several skeletal dysplasias that can be observed on prenatal ultrasound. It describes key features and prognosis for conditions including achondrogenesis, thanatophoric dysplasia, campomelic dysplasia, osteogenesis imperfecta, hypophosphatasia, asphyxiating thoracic dystrophy, diastrophic dysplasia, chondrodysplasia punctata, kniest dysplasia, isolated limb reduction, robert's syndrome, femur-fibula-ulna syndrome, holt-oram syndrome, thrombocytopenia absent radius syndrome, and cleidocranial dystosis. Many of these conditions are lethal, while others may
Developmental dysplasia hip
Developmental dysplasia of the hip (DDH) is a spectrum of hip disorders involving abnormal development of the femoral head and acetabulum. It ranges from instability where the femoral head can subluxate to full dislocation. Risk factors include ligamentous laxity and breech positioning. Ultrasound and x-rays are used to diagnose and monitor treatment, which may involve closed or open reduction depending on age, along with bracing or casting. The goal is early concentric reduction to prevent future hip degeneration.
Osteopetrosis
This document discusses osteopetrosis, also known as marble bone disease, which is a rare hereditary disorder characterized by defective osteoclast function that results in abnormally dense and brittle bones. There are two subtypes: infantile autosomal recessive osteopetrosis, which is more severe and often fatal in childhood, and autosomal dominant osteopetrosis, which is less severe and allows survival into adulthood. The document describes the clinical features, radiographic findings, differential diagnoses, and key features that distinguish osteopetrosis from similar conditions like pyknodysostosis and melorheostosis.
imaging in intrauterine skeletal dysplasia
diagnostic
algorithm for use in fetuses with severe limb shortening
and/or abnormal mineralization.
Skeletal dysplasias are a heterogeneous group of conditions associated with abnormalities of the skeleton that are caused by widespread disturbance of bone growth beginning in fetal development. Prenatal diagnosis of skeletal dysplasias is challenging due to overlapping features between conditions, lack of molecular diagnosis for many disorders, and variability in phenotypic presentation. Ultrasound evaluation involves systematic imaging of the long bones, thorax, hands, feet, skull, spine, and pelvis to assess for abnormalities in bone shape, size, mineralization and the presence of other phenotypic features. Accurate diagnosis requires a multidisciplinary approach including
Carpal bone fractures
The document discusses carpal bone fractures and the anatomy of the carpal bones. It describes the bones that make up the proximal and distal rows of carpal bones. Key carpal bones like the scaphoid, lunate, and capitate are highlighted. The document outlines the ligaments of the wrist, blood supply, ossification process, biomechanics including concepts like the link and column concepts, and common injuries like carpal instability and fractures. Clinical evaluation including history, exam, and radiographic evaluation is also summarized.
Dwarfism, bonydysplasia
This document provides an overview of dwarfism (bone dysplasias), including classification, causes, signs and symptoms, radiographic findings, and treatment for various types. It discusses proportionate vs disproportionate dwarfism and classifications based on location and source. Specific types covered include achondroplasia, spondyloepiphyseal dysplasia, chondrodysplasia punctata, Kniest syndrome, metaphyseal chondrodysplasia, multiple epiphyseal dysplasia, and mucopolysaccharidoses. Treatment focuses on managing skeletal deformities and complications.
Approach to skeletal dysplasia
This document provides an overview of the classification and assessment of skeletal abnormalities. It discusses the main categories of skeletal dysplasias including osteochondrodysplasias, dysostoses, and other disorders. Prenatal ultrasound assessment of skeletal abnormalities is outlined examining features of the skull, chest, spine, and long bones. Postnatal assessment involves examining disproportion, limb involvement, spine, chest, and skeletal radiography. Key anatomical locations and bone abnormalities are described.
Osteogenesis imperfecta
This document discusses osteogenesis imperfecta, a hereditary condition characterized by fragile bones. It is caused by abnormalities in type I collagen production and affects bone formation. The condition ranges in severity and can cause blue sclera, hearing loss, joint laxity, and bone fractures from minor trauma that heal slowly with abnormal bone formation. Management includes braces to prevent fractures, bisphosphonate therapy to increase bone density and reduce fractures, and surgery for deformity correction in severe cases.
Inflamatory arthritis
Rheumatoid arthritis is a common inflammatory joint disease characterized by symmetric joint swelling, pain, and erosion. It affects around 1% of the population, predominantly women aged 40-60. Genetic and environmental factors contribute to disease risk. Early treatment with disease-modifying drugs like methotrexate can help control symptoms, prevent bone erosion, and reduce joint damage and loss of function. The goal of treatment is clinical remission to minimize long-term effects of the disease.
Listhesis (2)
This document provides information about spondylolisthesis, including its anatomy, classification, presentation, diagnosis, and treatment. It defines spondylolisthesis as the slipping of one vertebra over another, most commonly between L4-L5 or L5-S1. It is classified into 5 types including dysplastic, isthmic, degenerative, traumatic, and pathological. Clinical presentation varies from being asymptomatic to back pain and sciatica. Diagnosis involves imaging like x-rays, CT, and MRI. Treatment ranges from conservative options like bracing and exercises to surgical options like decompression and fusion when conservative treatments fail.
Osteochondrosis
Osteochondroses are a group of diseases involving fragmentation and sclerosis of epiphyses or apophyses in immature skeletons. They are categorized as conditions characterized by osteonecrosis, conditions related to trauma/stress without osteonecrosis, or normal variations in ossification. Common examples include Legg-Calvé-Perthes disease of the femoral head in boys ages 4-8, Kienböck's disease affecting the lunate bone in adults ages 20-40, and Osgood-Schlatter disease causing tibial tuberosity apophysitis in active adolescents. Imaging can demonstrate pathognomonic findings that help diagnose and classify these self-limiting bone growth disorders.
Skeletal dysplasias
This document provides an overview of skeletal dysplasias, including their definition, pathogenesis, classification, and examples of some specific dysplasias. It defines skeletal dysplasias as disorders affecting bone and cartilage growth and development. The document discusses Achondroplasia, the most common form of dwarfism caused by mutations in FGFR3; Hypochondroplasia, a milder form also caused by FGFR3 mutations; and Kniest Dysplasia and Spondyloepiphyseal Dysplasia, which involve mutations in collagen genes and affect vertebrae and epiphyses. It provides details on clinical features, radiographic findings, complications, and management of these conditions
Osteogenesis imperfecta (OI)
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder that causes bones to be fragile and break easily. It results from a problem with collagen formation and is characterized by bone deformities. There are four main types based on severity, with types I and IV being milder forms and types II and III having more severe manifestations like fractures before birth. Symptoms include a history of fractures, bone deformities, short stature, blue sclera, and hearing loss. Treatment focuses on fracture management with casting, bracing, and surgery to improve mobility. Prognosis depends on type, with type I having a normal life expectancy and types II and III often being fatal in inf
An approach to malignant bone tumors
This document provides an overview of malignant bone tumors, including their classification, occurrence, imaging appearance, and examples. It discusses several primary malignant bone tumors in detail, including osteosarcoma and multiple myeloma. Osteosarcoma most commonly affects teenagers and young adults, presents as aggressive bone destruction with periosteal reaction on x-ray, and has variable appearances on MRI/CT. Multiple myeloma commonly affects older adults, causes lytic lesions scattered throughout the skeleton appearing as "punched out" areas on x-ray, and MRI is most sensitive for detecting its bone involvement. The document outlines radiographic features that can help characterize and differentiate various malignant bone tumors.
Skeletal dysplasia grand round
1. A skeletal dysplasia is a congenital abnormality of bone growth or development that results in structural abnormalities of the bones.
2. Making a diagnosis involves taking a thorough history and physical examination, including measurements of height, limb lengths, and facial features. Radiographs can identify which bones are affected.
3. Achondroplasia is the most common skeletal dysplasia, caused by a mutation in the FGFR3 gene, and is characterized by disproportionate short stature, frontal bossing, trident hands, genu varum, and foramen magnum stenosis.
Osteogenesis imperfecta - By Dr. Lokesh Sharoff
Osteogenesis imperfecta is a genetic disorder that causes bone fragility and fractures. There are several classifications and clinical features are dependent on severity. Treatment involves bisphosphonates to increase bone density and reduce fractures, bracing to prevent fractures and allow mobility, and surgery to correct deformities. The goal of treatment is to maximize function and ambulation while preventing further fractures and deformity.
Diagnostic Imaging of Bone Dysplasia
This document provides an overview of several bone dysplasias (skeletal abnormalities) with key radiographic features summarized for each. It discusses 7 specific dysplasias: Cleidocranial dysplasia, Osteogenesis imperfecta, Osteopetrosis, Achondroplasia, Mucopolysaccharidosis, Chondroectodermal dysplasia, and Pyknodysostosis. For each, it covers incidence, types if relevant, and the characteristic radiographic abnormalities seen in locations like the skull, spine, pelvis, and long bones. Common findings included bone fragility/fractures, vertebral anomalies, distinctive hand/wrist abnormalities, and skeletal disproportion
Skeletal dysplasia
An Overview of Skeletal Dysplasia. Abnormality of skeleto muscular system resulting into deformities, growth arrest and functionalLimitations
Legg calve perthes disease
Legg-Calve-Perthes disease is a condition characterized by osteonecrosis of the femoral head typically seen in children between the ages of 4-8 years old. It results from disrupted blood supply to the femoral capital epiphysis, leading to bone death and deformity of the femoral head over time. Treatment involves relieving pain, protecting weight bearing, restoring range of motion, and minimizing femoral head deformity. Younger children with milder involvement are often treated conservatively with bracing and activity restriction while older children or those with more severe involvement may require surgical procedures like varus derotation osteotomy to improve containment of the femoral head within the acetabulum. The goals of treatment are to improve mobility
Simple bone cyst (unicameral)
Simple bone cysts, also known as unicameral bone cysts, are fluid-filled cavities within bone that typically occur in the long bones of children ages 4-10. They enlarge during growth but become inactive after skeletal maturity. Active cysts develop near the growth plate and can cause pathologic fractures. Treatment involves curettage to remove the cyst lining and bone grafting to prevent fractures and reduce the risk of recurrence.
Sprengel deformity
This document provides an overview of Sprengel's deformity, a rare congenital anomaly where the scapula is elevated and rotated medially. Key points:
- It results from interrupted migration of the scapula during embryonic development.
- Clinical features include an elevated shoulder, restricted shoulder movement, and sometimes scoliosis. Severity is graded based on elevation level.
- Diagnosis is made through x-rays showing elevated scapula position. CT scans can show associated bone anomalies.
- Surgical treatment aims to lower the scapula through muscle releases and reattachments, with the goal of improving function and asymmetry. Complications can include brachial plexus injury or sc
Perthes disease
LCPD or Perthes disease - idiopathic avascular necrosis of femoral head, characterized mainly in child age 4-7 years - with a feature of limping and pain in the hip or groin
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
This document provides information on various chromosomal abnormalities and genetic diseases, including their incidence and key characteristics. It discusses autosomal and sex chromosome aneuploidies such as Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, and Klinefelter syndrome. It also summarizes autosomal deletions and duplications syndromes such as Wolf-Hirschhorn syndrome, Cri du Chat syndrome, and Williams syndrome. Finally, it outlines antenatal screening methods for fetal chromosomal abnormalities.
Achondroplasia
This presentation gives a detailed study of achondroplasia-caused conditions, with CT-imaging and other detailed figures. It also elaborates management techniques and recommended consultation for the disease.
Achondroplasia
Achondroplasia is caused by a gene mutation that affects bone formation and has been shown to be associated with advanced paternal age. The gene mutation responsible for achondroplasia impacts bone formation.
More Related Content
What's hot
imaging in intrauterine skeletal dysplasia
diagnostic
algorithm for use in fetuses with severe limb shortening
and/or abnormal mineralization.
Skeletal dysplasias are a heterogeneous group of conditions associated with abnormalities of the skeleton that are caused by widespread disturbance of bone growth beginning in fetal development. Prenatal diagnosis of skeletal dysplasias is challenging due to overlapping features between conditions, lack of molecular diagnosis for many disorders, and variability in phenotypic presentation. Ultrasound evaluation involves systematic imaging of the long bones, thorax, hands, feet, skull, spine, and pelvis to assess for abnormalities in bone shape, size, mineralization and the presence of other phenotypic features. Accurate diagnosis requires a multidisciplinary approach including
Carpal bone fractures
The document discusses carpal bone fractures and the anatomy of the carpal bones. It describes the bones that make up the proximal and distal rows of carpal bones. Key carpal bones like the scaphoid, lunate, and capitate are highlighted. The document outlines the ligaments of the wrist, blood supply, ossification process, biomechanics including concepts like the link and column concepts, and common injuries like carpal instability and fractures. Clinical evaluation including history, exam, and radiographic evaluation is also summarized.
Dwarfism, bonydysplasia
This document provides an overview of dwarfism (bone dysplasias), including classification, causes, signs and symptoms, radiographic findings, and treatment for various types. It discusses proportionate vs disproportionate dwarfism and classifications based on location and source. Specific types covered include achondroplasia, spondyloepiphyseal dysplasia, chondrodysplasia punctata, Kniest syndrome, metaphyseal chondrodysplasia, multiple epiphyseal dysplasia, and mucopolysaccharidoses. Treatment focuses on managing skeletal deformities and complications.
Approach to skeletal dysplasia
This document provides an overview of the classification and assessment of skeletal abnormalities. It discusses the main categories of skeletal dysplasias including osteochondrodysplasias, dysostoses, and other disorders. Prenatal ultrasound assessment of skeletal abnormalities is outlined examining features of the skull, chest, spine, and long bones. Postnatal assessment involves examining disproportion, limb involvement, spine, chest, and skeletal radiography. Key anatomical locations and bone abnormalities are described.
Osteogenesis imperfecta
This document discusses osteogenesis imperfecta, a hereditary condition characterized by fragile bones. It is caused by abnormalities in type I collagen production and affects bone formation. The condition ranges in severity and can cause blue sclera, hearing loss, joint laxity, and bone fractures from minor trauma that heal slowly with abnormal bone formation. Management includes braces to prevent fractures, bisphosphonate therapy to increase bone density and reduce fractures, and surgery for deformity correction in severe cases.
Inflamatory arthritis
Rheumatoid arthritis is a common inflammatory joint disease characterized by symmetric joint swelling, pain, and erosion. It affects around 1% of the population, predominantly women aged 40-60. Genetic and environmental factors contribute to disease risk. Early treatment with disease-modifying drugs like methotrexate can help control symptoms, prevent bone erosion, and reduce joint damage and loss of function. The goal of treatment is clinical remission to minimize long-term effects of the disease.
Listhesis (2)
This document provides information about spondylolisthesis, including its anatomy, classification, presentation, diagnosis, and treatment. It defines spondylolisthesis as the slipping of one vertebra over another, most commonly between L4-L5 or L5-S1. It is classified into 5 types including dysplastic, isthmic, degenerative, traumatic, and pathological. Clinical presentation varies from being asymptomatic to back pain and sciatica. Diagnosis involves imaging like x-rays, CT, and MRI. Treatment ranges from conservative options like bracing and exercises to surgical options like decompression and fusion when conservative treatments fail.
Osteochondrosis
Osteochondroses are a group of diseases involving fragmentation and sclerosis of epiphyses or apophyses in immature skeletons. They are categorized as conditions characterized by osteonecrosis, conditions related to trauma/stress without osteonecrosis, or normal variations in ossification. Common examples include Legg-Calvé-Perthes disease of the femoral head in boys ages 4-8, Kienböck's disease affecting the lunate bone in adults ages 20-40, and Osgood-Schlatter disease causing tibial tuberosity apophysitis in active adolescents. Imaging can demonstrate pathognomonic findings that help diagnose and classify these self-limiting bone growth disorders.
Skeletal dysplasias
This document provides an overview of skeletal dysplasias, including their definition, pathogenesis, classification, and examples of some specific dysplasias. It defines skeletal dysplasias as disorders affecting bone and cartilage growth and development. The document discusses Achondroplasia, the most common form of dwarfism caused by mutations in FGFR3; Hypochondroplasia, a milder form also caused by FGFR3 mutations; and Kniest Dysplasia and Spondyloepiphyseal Dysplasia, which involve mutations in collagen genes and affect vertebrae and epiphyses. It provides details on clinical features, radiographic findings, complications, and management of these conditions
Osteogenesis imperfecta (OI)
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder that causes bones to be fragile and break easily. It results from a problem with collagen formation and is characterized by bone deformities. There are four main types based on severity, with types I and IV being milder forms and types II and III having more severe manifestations like fractures before birth. Symptoms include a history of fractures, bone deformities, short stature, blue sclera, and hearing loss. Treatment focuses on fracture management with casting, bracing, and surgery to improve mobility. Prognosis depends on type, with type I having a normal life expectancy and types II and III often being fatal in inf
An approach to malignant bone tumors
This document provides an overview of malignant bone tumors, including their classification, occurrence, imaging appearance, and examples. It discusses several primary malignant bone tumors in detail, including osteosarcoma and multiple myeloma. Osteosarcoma most commonly affects teenagers and young adults, presents as aggressive bone destruction with periosteal reaction on x-ray, and has variable appearances on MRI/CT. Multiple myeloma commonly affects older adults, causes lytic lesions scattered throughout the skeleton appearing as "punched out" areas on x-ray, and MRI is most sensitive for detecting its bone involvement. The document outlines radiographic features that can help characterize and differentiate various malignant bone tumors.
Skeletal dysplasia grand round
1. A skeletal dysplasia is a congenital abnormality of bone growth or development that results in structural abnormalities of the bones.
2. Making a diagnosis involves taking a thorough history and physical examination, including measurements of height, limb lengths, and facial features. Radiographs can identify which bones are affected.
3. Achondroplasia is the most common skeletal dysplasia, caused by a mutation in the FGFR3 gene, and is characterized by disproportionate short stature, frontal bossing, trident hands, genu varum, and foramen magnum stenosis.
Osteogenesis imperfecta - By Dr. Lokesh Sharoff
Osteogenesis imperfecta is a genetic disorder that causes bone fragility and fractures. There are several classifications and clinical features are dependent on severity. Treatment involves bisphosphonates to increase bone density and reduce fractures, bracing to prevent fractures and allow mobility, and surgery to correct deformities. The goal of treatment is to maximize function and ambulation while preventing further fractures and deformity.
Diagnostic Imaging of Bone Dysplasia
This document provides an overview of several bone dysplasias (skeletal abnormalities) with key radiographic features summarized for each. It discusses 7 specific dysplasias: Cleidocranial dysplasia, Osteogenesis imperfecta, Osteopetrosis, Achondroplasia, Mucopolysaccharidosis, Chondroectodermal dysplasia, and Pyknodysostosis. For each, it covers incidence, types if relevant, and the characteristic radiographic abnormalities seen in locations like the skull, spine, pelvis, and long bones. Common findings included bone fragility/fractures, vertebral anomalies, distinctive hand/wrist abnormalities, and skeletal disproportion
Skeletal dysplasia
An Overview of Skeletal Dysplasia. Abnormality of skeleto muscular system resulting into deformities, growth arrest and functionalLimitations
Legg calve perthes disease
Legg-Calve-Perthes disease is a condition characterized by osteonecrosis of the femoral head typically seen in children between the ages of 4-8 years old. It results from disrupted blood supply to the femoral capital epiphysis, leading to bone death and deformity of the femoral head over time. Treatment involves relieving pain, protecting weight bearing, restoring range of motion, and minimizing femoral head deformity. Younger children with milder involvement are often treated conservatively with bracing and activity restriction while older children or those with more severe involvement may require surgical procedures like varus derotation osteotomy to improve containment of the femoral head within the acetabulum. The goals of treatment are to improve mobility
Simple bone cyst (unicameral)
Simple bone cysts, also known as unicameral bone cysts, are fluid-filled cavities within bone that typically occur in the long bones of children ages 4-10. They enlarge during growth but become inactive after skeletal maturity. Active cysts develop near the growth plate and can cause pathologic fractures. Treatment involves curettage to remove the cyst lining and bone grafting to prevent fractures and reduce the risk of recurrence.
Sprengel deformity
This document provides an overview of Sprengel's deformity, a rare congenital anomaly where the scapula is elevated and rotated medially. Key points:
- It results from interrupted migration of the scapula during embryonic development.
- Clinical features include an elevated shoulder, restricted shoulder movement, and sometimes scoliosis. Severity is graded based on elevation level.
- Diagnosis is made through x-rays showing elevated scapula position. CT scans can show associated bone anomalies.
- Surgical treatment aims to lower the scapula through muscle releases and reattachments, with the goal of improving function and asymmetry. Complications can include brachial plexus injury or sc
Perthes disease
LCPD or Perthes disease - idiopathic avascular necrosis of femoral head, characterized mainly in child age 4-7 years - with a feature of limping and pain in the hip or groin
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
This document provides information on various chromosomal abnormalities and genetic diseases, including their incidence and key characteristics. It discusses autosomal and sex chromosome aneuploidies such as Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, and Klinefelter syndrome. It also summarizes autosomal deletions and duplications syndromes such as Wolf-Hirschhorn syndrome, Cri du Chat syndrome, and Williams syndrome. Finally, it outlines antenatal screening methods for fetal chromosomal abnormalities.
What's hot (20)
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
Viewers also liked
Achondroplasia
This presentation gives a detailed study of achondroplasia-caused conditions, with CT-imaging and other detailed figures. It also elaborates management techniques and recommended consultation for the disease.
Achondroplasia
Achondroplasia is caused by a gene mutation that affects bone formation and has been shown to be associated with advanced paternal age. The gene mutation responsible for achondroplasia impacts bone formation.
Acondroplasia
La acondroplasia es un desorden hereditario autosómico dominante caracterizado por el crecimiento disarmónico del cuerpo debido al escaso crecimiento de los huesos largos. Se produce por mutaciones en el gen FGFR3 y afecta a aproximadamente 1 de cada 15,000-40,000 nacidos vivos. Sus principales características incluyen una talla baja, macrocefalia, puente nasal deprimido y manos características. No requiere de tratamiento médico especial, pero se debe realizar vigilancia ortopédica.
AcondroplasiA
La acondroplasia es una forma de enanismo autosómico dominante que ocurre en 1 de cada 30,000 personas, causada por mutaciones en el gen FGFR3 que codifica el receptor de factor de crecimiento fibroblástico 3. Los acondroplásicos tienen huesos largos no desarrollados adecuadamente y alcanzan una altura predecible de entre 122-144 cm para varones y 117-137 cm para mujeres. No existe tratamiento para aumentar la estatura, solo cirugía de alargamiento de huesos.
Achondroplasia
Achondroplasia is a genetic disorder characterized by abnormal bone growth resulting in short stature, with disproportionately short limbs. Key features include shortening and widening of the long bones, with the proximal segments most affected. Other findings are frontal bossing of the skull, spinal stenosis, recurrent ear infections, and normal intelligence. Diagnosis can be made prenatally by ultrasound or after birth by x-rays showing characteristic bone abnormalities. Treatment may include growth hormone therapy in early childhood, and complications can include spinal stenosis.
Acondroplasia
La acondroplasia es el tipo más común de enanismo causado por una mutación genética. Se hereda como un rasgo autosómico dominante y causa un trastorno del crecimiento de los huesos, dando como resultado miembros cortos, torso normal y estatura baja. La mutación ocurre en el gen FGFR3 que codifica el receptor 3 del factor de crecimiento fibroblástico, alterando las señales de crecimiento en la placa de crecimiento ósea. No existe un tratamiento específico, pero se pueden tratar las complicaciones y en
Achondroplasia
Achondroplasia is a genetic disorder that causes dwarfism by limiting the growth of long bones, resulting in disproportionately short stature where the limbs are shortened but head and trunk are normally sized. It is the most common type of dwarfism, with average adult heights of 131 cm for males and 123 cm for females, and is caused by an abnormality of cartilage formation. If both parents carry the mutant gene, it is very unlikely their child will survive past a few months due to the homozygous condition.
Acondroplasia
Este documento describe la acondroplasia, una enfermedad genética dominante causada por mutaciones en el gen FGFR3 que codifica el receptor 3 del factor de crecimiento de fibroblastos. Esto provoca un crecimiento anormal de los huesos y da lugar a enanismo, extremidades cortas y cabeza grande. El documento explica los síntomas, diagnóstico, epidemiología y tratamiento de la acondroplasia.
Achondroplasia, pseudoachondroplasia, hypochondroplasia
This document summarizes three conditions - Achondroplasia, Pseudoachondroplasia, and Hypochondroplasia. Achondroplasia is characterized by failure of normal cartilage growth, resulting in short stature and limb abnormalities. Pseudoachondroplasia involves irregular, fragmented epiphyses and flared metaphyses. Hypochondroplasia causes short stature through mild metaphyseal flare and narrowing of the lumbar spine.
Achondroplasia, pseudochondroplasia & hypochondroplasia
Radiological features of achondroplasia, pseudochondroplasia and hypochondroplasia with explanation with the help of images.
Dwarfism
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to an underlying medical condition. It is caused by genetic mutations or disorders that affect bone growth and development. The most common type of dwarfism is achondroplasia which causes disproportionate short stature with normal trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height cannot be increased, treatment focuses on managing related health issues through surgery or hormone therapy.
Genetica acondroplasia
La acondroplasia es un trastorno genético del crecimiento óseo caracterizado por brazos y piernas muy cortos con un torso de tamaño casi normal. Se debe principalmente a mutaciones en el gen FGFR3 que codifica el receptor 3 de factor de crecimiento fibroblástico.
Acondroplasia. genetica
La acondroplasia es una forma de enanismo autosómico dominante causada por mutaciones en el gen FGFR3 que codifica el receptor 3 del factor de crecimiento fibroblástico. Esto provoca un desarrollo anormal de los huesos largos, resultando en extremidades cortas y un tamaño corporal desproporcionado. La acondroplasia se presenta en aproximadamente 1 de cada 30,000 personas y causa problemas ortopédicos y discapacidad. No existe tratamiento para aumentar la talla, aunque se pueden realizar procedimientos de
Presentation1.pptx, radiological imaging of skeletal dysplasia
This document provides radiological images and descriptions of several skeletal dysplasias. It discusses conditions such as cleidocranial dysplasia, which can cause respiratory distress in newborns. Other conditions summarized include osteopoikilosis, mucopolysaccharidoses, multiple epiphyseal dysplasia, metaphyseal dysplasia, spondyloepiphyseal dysplasia, chondroectodermal dysplasia, achondroplasia, fibrous dysplasia, and dysplasia epiphysealis hemimelica. For each condition, the document highlights features visible in imaging and clinical symptoms.
Radiological approach to Congenital skeletal dysplasia
This document provides an overview of skeletal dysplasias and their radiological diagnosis. It defines osteochondrodysplasias as abnormalities of bone and cartilage growth due to abnormal gene expression, and dysostoses as altered bone formation in the first 6 weeks of life with a fixed phenotype. International classifications of osteochondrodysplasias are described, along with imaging approaches for antenatal ultrasound and post-natal skeletal surveys. Specific skeletal dysplasias are then discussed in more detail based on their classification group, with a focus on characteristic radiological findings for each condition. The Radiological Electronic Atlas Of Malformation Syndromes And Skeletal Dysplasias (REAMS) is also introduced as an online
Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder that causes tumors to form in the nervous system. There are two main types, NF1 and NF2. NF1 is caused by a mutation on chromosome 17 and affects nerve cell growth, while NF2 is caused by a mutation on chromosome 22 and affects tumor suppression. The main symptoms and characteristics of each type are described. Both types are inherited in an autosomal dominant pattern and can be passed down through families. There is no cure for NF, and treatment focuses on surgically removing tumors when possible.
Achondroplasia
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
Submerged tooth
Ankylosis is the fusion of a tooth root to the alveolar bone due to lack of periodontal ligament space. It occurs most commonly in deciduous teeth, especially the mandibular second molar, as a result of root resorption followed by fusion to the bone. This prevents normal exfoliation of deciduous teeth and impaction of the permanent successor. Ankylosis can be caused by local metabolic changes, trauma, infection or abnormal tongue pressure. Clinically, ankylosed teeth appear sunken, lack mobility, and percussion elicits a solid sound. Radiographically, there is partial or complete absence of the periodontal ligament space and lamina dura. Treatment depends on
Delayed eruption
This document reviews delayed tooth eruption (DTE), including potential causes, clinical implications, investigations, and treatment approaches. DTE can be caused by local factors like physical obstructions, injuries, or arch length deficiencies, as well as systemic factors such as preterm birth, malnutrition, endocrine disorders, genetic syndromes, and medical treatments. Diagnosing DTE involves examining dental development stages, medical history, and radiographs. Treatment depends on the cause but may include removing obstructions, surgically exposing teeth, applying orthodontic traction, or treating underlying medical conditions.
8 9 a,ryan shaw,achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism caused by mutations in a gene on chromosome 4. It affects bone growth, resulting in short arms and legs, a large head, and average trunk size. While there is no cure, treatments focus on managing health conditions like obesity and breathing issues that can arise.
Viewers also liked (20)
Achondroplasia, pseudoachondroplasia, hypochondroplasia
Achondroplasia, pseudoachondroplasia, hypochondroplasia
Achondroplasia, pseudochondroplasia & hypochondroplasia
Achondroplasia, pseudochondroplasia & hypochondroplasia
Presentation1.pptx, radiological imaging of skeletal dysplasia
Presentation1.pptx, radiological imaging of skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
Similar to Achondroplasia
CMMB 403
FGFR3 is a gene that encodes a protein involved in bone growth. A mutation in FGFR3 causes the genetic disorder achondroplasia, which results in dwarfism. The mutation causes premature activation of the STAT signaling pathway, leading to decreased bone growth. One paper described the initial discovery of FGFR3 through identifying similarities to other FGFR genes and cloning the gene. A second paper discussed how the FGFR3 mutation specifically causes achondroplasia by prematurely activating the STAT pathway and decreasing chondrocyte proliferation.
Stem cells
Stem cells can develop into specialized cells and act as a repair system in the body. They are found in embryos, umbilical cords, and fetuses. While stem cell research may help cure diseases, it is controversial because it involves embryos and fetal tissue. Supporters argue it could treat conditions like Parkinson's and heart disease, while opponents believe it amounts to killing embryos or playing God. The document discusses genetic disorders, the human genome project, and arguments for and against stem cell research.
Adler migge genetics research march 13-template
This document discusses genetic modification of foods and the implications. It begins with an overview of genetics principles like heredity, traits, and Punnett squares. It then discusses the Human Genome Project which sought to map all human genes. The project had implications for genetic screening, privacy, and potential discrimination. The document also discusses types of genetic disorders like single gene, chromosomal abnormalities, and multifactorial disorders. It provides examples like cystic fibrosis. Finally, it presents arguments for and against genetically modifying foods, noting concerns about allergic reactions, health risks, and dangers of unknown changes to molecular structures in foods.
Nucleotide Groupings
Here are some key points to focus on for the psychology midterm:
- Memory: Define different types of memory (sensory, short-term, long-term, episodic, semantic, procedural). Understand memory models (Atkinson-Shiffrin, working memory). Know factors that influence memory accuracy and storage.
- Learning: Define classical and operant conditioning. Understand principles of reinforcement, punishment, extinction. Know examples of different conditioning paradigms.
- Cognition: Understand how attention, perception, problem-solving work. Know biases and heuristics. Define language and thinking.
- Development: Know major theories of development (psychoanalytic, cognitive, behavioral). Understand development
Epigenetics
Epigenetics refers to heritable changes in gene expression that do not involve changes to the underlying DNA sequence. Experiments with genetically identical mice and rats showed that differences in maternal diet during pregnancy can lead to epigenetic changes that affect offspring phenotypes such as fur color, weight, and disease risk, without changing genotypes. Studies also demonstrate that early life experiences like levels of maternal care can induce epigenetic changes in brain development and stress response in offspring. These findings have potential applications for detecting and preventing health issues influenced by epigenetic factors during fetal development and across generations.
Power Point Genetic Modification
The document discusses several topics related to genetics including:
1) How dominant and recessive alleles control traits and how co-dominant alleles result in a third phenotype from both parents' traits.
2) The Human Genome Project which studied the human genome framework across several countries from 1990-2003.
3) Examples of genetic disorders - Sickle cell anemia, Down syndrome, and Epilepsy.
4) The role of genetic counseling in informing parents about potential genetic disorders in future children and available tests and their limitations.
5) Debate around issues with genetic modification including unintended consequences and challenging divine creation. Benefits discussed include developing hardier crops and animals.
Lesson 14.2
Genetic disorders can be caused by changes in individual genes or chromosomes. Changes in a gene's DNA sequence can alter proteins and affect phenotypes. Sickle cell disease is caused by a defective allele that makes hemoglobin less soluble, causing red blood cells to take on a sickle shape. Cystic fibrosis is usually caused by the deletion of three DNA bases, causing a protein to fold improperly and preventing chloride transport. Huntington's disease involves a dominant allele with an abnormal number of repeats of the codon CAG, coding for glutamine. Chromosomal disorders can result from errors in meiosis like nondisjunction, leading to an abnormal number of chromosomes and conditions like Down syndrome, Turner syndrome, or Klinefelter syndrome.
Genetic Privacy Part 1
This document discusses genetic privacy and the Genetic Information Nondiscrimination Act (GINA) of 2008. It provides background on genetics concepts like dominant and recessive alleles. It also discusses the Human Genome Project and its ethical implications regarding access to genetic information. GINA was passed to prevent health insurers and employers from discriminating based on genetic information. Title I of GINA protects access to health insurance, while Title II protects employees from discrimination in hiring, firing, pay or benefits based on genetic factors. The act aims to allow people to learn more about genetic risks without fear of negative consequences.
Genetics research project
This document discusses several key genetics concepts including dominant and recessive alleles, Punnett squares, pedigree charts, single gene disorders, chromosome disorders, and multifactoral disorders. It also covers topics like the Human Genome Project, genetic counseling, cloning, biotechnology foods, and how biotech foods could help address issues like world hunger and malnutrition.
Organ cloning
This document discusses organ cloning and the potential benefits it could provide for patients waiting for organ transplants. It also discusses the human genome project and its goals of mapping all human genes. Additionally, it covers genetic disorders like cystic fibrosis and Down syndrome, how karyotypes are used to predict disorders, and how genetic counseling can help parents understand potential genetic risks for their children. While some people have ethical concerns about organ cloning, the author argues it could save lives by providing organs faster than traditional donation and may help patients with conditions like diabetes avoid daily medical treatments.
Organ cloning jarrett morley
Organ cloning could help people who need organ transplants by providing a genetic match without rejection risks. However, cloning technology is still inefficient and unsafe - most cloning attempts fail and clones often develop health problems. While organ cloning could reduce the need for donors, more research is needed to address the low success rates and health risks before considering cloning human organs.
Genetics research-template
1) Alleles determine physical traits, with dominant alleles always showing and recessive alleles only showing in the absence of dominants.
2) The Human Genome Project mapped the human genome between 1990-2003, identifying genes associated with disease. It also raised issues around discrimination based on genetic information.
3) Therapeutic cloning could generate transplant tissues and organs using a patient's own DNA, saving lives by avoiding donor shortages and rejection.
Similar to Achondroplasia (12)
More from asteinman
Why You Want an iPad Instead of an Interactive Whiteboard
This document discusses the benefits of using an iPad and Apple TV instead of an interactive whiteboard for classroom instruction. It outlines how the iPad and Apple TV can be used together for whiteboarding, annotating PDFs and videos, video chatting, and cloud storage. Potential drawbacks like requiring WiFi and being limited to one app at a time are addressed. Cost breakdowns and grant/funding options are provided. Best practices for iPad/Apple TV classroom usage are suggested.
Educational technology presentation1
This document discusses goals and theories related to technology in education. It presents instrumental thinking, which focuses on finding reasons to use new technologies, versus missional thinking, which focuses on enhancing student outcomes by using technology appropriately. Several examples are provided of using technologies like online assessments, clickers, wikis and blogs to address problems of practice and improve outcomes related to feedback, communication, extending learning, and engaging students. Integrating technology effectively requires a strong technology leader who can research, integrate, and train teachers on technologies.
Technology in education
This document discusses goals and theories related to technology in education. It outlines two major goals: effectively enhancing student education and preparing students for a technology-rich future. It describes two approaches to integrating technology - instrumental thinking, which focuses on using new technologies, and missional thinking, which focuses on enhancing student outcomes. The rest of the document provides examples of problems in education, potential technology solutions, and expected outcomes.
Student test viewer
This document discusses using Moodle and Safe Exam Browser for online secure testing. It notes the benefits of online testing such as immediate feedback and time savings, but also challenges of ensuring security. Safe Exam Browser limits student access during tests but requires technical skills and its German language interface is difficult. A modified version called Student Test Viewer addresses some issues but configuration remains challenging. Thorough testing of the system is recommended before full implementation.
Bio brochure
Hemochromatosis is an iron overload disease caused by a mutation in the HFE gene that results in the body absorbing and storing too much iron. Symptoms include joint pain, fatigue, liver disease, diabetes, and heart abnormalities. Treatment involves removing excess iron through regular blood donations to reduce iron levels to normal. While symptoms can impact daily life, early detection and treatment does not affect lifespan. Research continues on understanding how the HFE gene regulates iron, how iron damages cells, differences in iron storage, and improving testing methods.
Unit 9 - DNA, RNA, and Proteins Notes
The document outlines key concepts about DNA, RNA, and proteins, including the structure of DNA, DNA replication, transcription, translation, and genes and mutations. It describes the molecular structure of DNA and how DNA nucleotides are linked together to form single and double strands. The document also provides bonus information on the history of discoveries related to DNA structure and function.
Down syndrome
Down syndrome is caused by the presence of an extra chromosome 21. It is neither dominant nor recessive as it results from an error in chromosome translation. The amyloid precursor protein gene on chromosome 21 may cause Down syndrome by interfering with cell signaling and leading to cell death. People with Down syndrome have distinct physical features like a flattened face and webbed fingers or toes. Treatments focus on managing any related health issues and providing early intervention programs. Life expectancy is around 50 years on average.
Ontogenesis imperfecta
The document discusses osteogenesis imperfecta (OI), also known as Lobstein syndrome. OI is caused by a dominant factor and results from mutations in the gene coding for type 1 collagen. Symptoms include bones fracturing easily, short stature, hearing loss at a young age, discolored or brittle teeth, and blue sclera. There are eight types of OI that vary in severity. While treatment options are limited, quality of life depends on severity and age of onset, requiring great medical care.
Xeroderma pigmentosum a2 arkadiy f, morgan f
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by extreme sun sensitivity. Individuals with XP cannot be exposed to UV light from the sun or special bulbs as they are unable to properly repair DNA damage caused by UV rays. This puts them at over 1000 times greater risk of developing skin cancers at a very young age. The disorder is inherited in an autosomal recessive pattern and affects individuals with mutations in any of 8 genes responsible for DNA repair after UV damage. Avoiding all UV exposure and use of protective clothing is the only way to manage symptoms and prevent health issues in those affected.
Xeroderma pigmentosum a2 arkadiy f, morgan f
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by extreme sun sensitivity. Individuals with XP cannot be exposed to UV light from the sun or special lighting as they are unable to properly repair damage to their DNA from UV radiation. This puts them at over 1000 times greater risk of developing skin cancers at a very young age. The disorder is inherited in an autosomal recessive pattern and results from mutations in any of 8 different genes responsible for DNA repair. Avoidance of UV light and protective clothing are the only ways to manage the condition currently, as there is no approved treatment yet.
Genetic disorder brochure
Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs and digestive tract. Symptoms include difficulty breathing, lung infections, and problems digesting food. It is caused by a mutation in the CFTR gene and is usually inherited from both parents who are carriers of the mutated gene. While there is no cure, treatments focus on clearing mucus from the lungs, treating infections with antibiotics, and maintaining good nutrition to control symptoms and prolong life. Advances in treatment have increased the median predicted survival age to the mid-30s.
Severe combined immunodeficiency [compatibility mode]
Severe combined immunodeficiency is a primary immune deficiency that causes problems with T cells and B cells, leading to frequent infections, skin infections, failure to grow, and fungal infections. It can be fatal if not treated early in an infant's life. The disorder is caused by genetic defects linked to the X chromosome or chromosomes 19 and 20, including defects in the ADA and IL2RG genes. Treatments include bone marrow transplants from identical donors, living in a sterile bubble, and gene therapy, though the latter is not always successful.
Lactose tolerance
Lactose intolerance is caused by a decrease in lactase production over time due to the nearby MCM6 gene. Symptoms like bloating, cramps and diarrhea occur 30 minutes to 2 hours after consuming milk products. While there is no cure, the condition can be managed by avoiding lactose and ensuring sufficient calcium intake from alternative sources. Lactose intolerance is inherited through recessive gene expression and affects 65% of humans, having little impact on daily life with dietary adjustments.
Hemophila pp
Hemophilia is a genetic bleeding disorder caused by mutations on the F8 gene located on the X chromosome. People with hemophilia experience prolonged bleeding from minor injuries due to a lack of clotting factor VIII or IX in their blood. Treatment involves replacement therapy through frequent injections of clotting factor concentrates. While treatment allows people with hemophilia to live normal lives, risks include developing antibodies against the clotting factor and bleeding complications. Researchers are studying gene therapy as a potential cure by correcting the defective genes that cause hemophilia.
Fragile x final
Fragile X syndrome is a genetic disorder caused by a change in the FMR1 gene on the X chromosome. It is the most common cause of inherited intellectual disability. Boys are more likely to be affected than girls due to males only having one X chromosome. Symptoms can include cognitive impairment, behavioral issues like hand flapping, and physical features such as a long face and flexible joints.
Biology broshure
Huntington disease is caused by a mutation on chromosome 4 where an increased number of CAG repeats results in earlier onset of the disease. Symptoms include mood swings, irritability, apathy, depression and anger. It is also the most common genetic cause of abnormal involuntary movements called chorea. Huntington disease has a dominant inheritance pattern where only one copy of the defective gene is needed to cause the disease. Future research on fetal tissue transplantation may provide a potential treatment approach.
Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder that causes tumors to grow on nerves. There are two types, NF1 and NF2, with NF2 generally more severe as it affects the central nervous system. NF is caused by changes in the NF1 or NF2 genes and has autosomal dominant inheritance. Symptoms vary but can include skin spots, nerve tumors, pain, and learning disabilities. While there is no cure, treatments include surgery to remove tumors and chemotherapy if tumors become cancerous. NF affects people differently and can impact daily life through physical problems, pain, or learning disabilities.
Retinoblastoma
Retinoblastoma is a rapidly-growing childhood eye cancer that affects the retina. It can be genetic or non-genetic. Symptoms include an unusual white pupil reflection and eye deformation. It is detected via eye exam and confirmed through retinal scans or other tests. Treatment involves chemotherapy, radiation, cryotherapy or laser treatments, and sometimes surgical eye removal. Most patients are cured and retain vision, though a few may lose an eye or vision.
Familial adenomatous polyposis
Familial Adenomatous Polyposis (FAP) is caused by a mutation on chromosome 5 that affects the APC gene. This gene codes for a protein involved in cell adhesion and signaling. Mutations cause a shortened, non-functional protein. Symptoms include 100+ polyps in the colon and other areas that often become cancerous in the 40s. FAP is inherited in an autosomal dominant pattern, with a 50% risk of passing it on. Treatment involves regular screening to detect and treat polyps early. For severe cases, removal of the colon and rectum may be necessary. Relatives should also receive screening.
Turnerâs syndrome
Turner's syndrome is a genetic condition that affects development in females caused by a missing or partial X chromosome. Common symptoms include short stature, broad chest, increased weight, and reproductive sterility. While there is no cure, treatment options focus on hormone therapy to promote growth and reduce osteoporosis risks, as well as modern reproductive technologies. Turner's syndrome is usually inherited from the father and patients can live normal lives with close medical monitoring.
More from asteinman (20)
Why You Want an iPad Instead of an Interactive Whiteboard
Why You Want an iPad Instead of an Interactive Whiteboard
Severe combined immunodeficiency [compatibility mode]
Severe combined immunodeficiency [compatibility mode]
Achondroplasia
- 1. Achondroplasia By: Mitchell Monarch
- 2. A mutation in bone growth which generally is one of the most common causes of dwarfism. What is it?
- 3. With the current technology given there are no cures for achondroplasia but there are ways to reduce the probability of the child to be born with it. Also there are multiple ways to treat some of the symptoms that the disease may cause such as hearing loss but the child/person will remain small with short legs and arms for their whole life. Is there a cure?
- 4. This is dominant trait so any one that has the disease will show the trait along with some of the symptoms. What kind of trait is this?
- 5. Achondroplasia is also known by other terms such as these. Also called chondrodystrophy, fetal rickets
- 6. The gene that causes achondroplasia is FGFR3 gene which is a gene that provides the instructions to making proteins. Exact name of gene with chart Can affect any of these chromosomes. Mainly common on 3rd set of chromosomes. ( Uic.Edu )
- 7. The exact change that happens to the amino acid change that causes achondroplasia is that the amino acid Guanine is replaced with Arginine. So the base pairing rule is messed up. Instead of C -> G its going C -> A which is the main mutation. What is the exact change that causes this mutation to occur?
- 8. Ivy Broadhead a 17 year old girl who has the genetic condition achondroplasia answers all the such as alterations to her life and how she gets around. Life for a person with achondroplasia
- 9. A group of scientists led by Dr. John Wasmuth were the first to look into the disease finding its cause. Who discovered this disease (Researched into it more)
- 10. To some this all up a pedigree chart from a family who has had the disease.
- 11. Carson-DeWitt, Rosalyn, MD. "Achondroplasia." Gale Encyclopedia of Medicine. Thomson Gale, 2006. Health Reference Center Academic. Web. 17 Apr. 2011. "achondroplasia." Mosby's Medical, Nursing, & Allied Health Dictionary. 5th ed. Mosby, 1998. Health Reference Center Academic. Web. 18 Apr. 2011. "FGFR3 - Fibroblast Growth Factor Receptor 3 - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 14 Apr. 2011. Web. 19 Apr. 2011. Broadhead, Ivy UK. "Living with Achondroplasia." Chroniclelive.co.uk. Chronicle Live, 4 Aug. 2005. Web. 19 Apr. 2011. Works Cited