An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
Ehlers Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by defects in collagen. There are several types of EDS with varying symptoms. The hypermobility type involves loose joints and double-jointedness. Classical EDS affects the skin, causing easy bruising and scarring. The vascular type is the most severe and life-threatening due to risk of organ and blood vessel rupture. While there is no cure for EDS, physical therapy can help strengthen joints to prevent dislocation. Gene therapy may help EDS in the future by replacing or inactivating mutated genes.
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Ehlers-Danlos syndrome (EDS) is a connective tissue disease caused by mutations in collagen genes. It affects connective tissues supporting skin, blood vessels, and organs. There are six main types classified by symptoms. EDS causes loose, elastic skin and fragile tissues, resulting in easy bruising and joint dislocations. While prevalence is estimated at 1 in 5,000, many cases may be undiagnosed. Treatment focuses on pain management, physical therapy, and managing complications.
Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues like skin, joints, and blood vessels. People with Ehlers-Danlos syndrome typically have extremely flexible joints and stretchy, fragile skin that is prone to tears and unable to hold stitches. A severe form called vascular Ehlers-Danlos syndrome can cause blood vessels, intestines or the uterus to suddenly rupture, so those with it may want genetic counseling before starting a family due to risks of complications.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Ehlers Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by defects in collagen. There are several types of EDS with varying symptoms. The hypermobility type involves loose joints and double-jointedness. Classical EDS affects the skin, causing easy bruising and scarring. The vascular type is the most severe and life-threatening due to risk of organ and blood vessel rupture. While there is no cure for EDS, physical therapy can help strengthen joints to prevent dislocation. Gene therapy may help EDS in the future by replacing or inactivating mutated genes.
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Ehlers-Danlos syndrome (EDS) is a connective tissue disease caused by mutations in collagen genes. It affects connective tissues supporting skin, blood vessels, and organs. There are six main types classified by symptoms. EDS causes loose, elastic skin and fragile tissues, resulting in easy bruising and joint dislocations. While prevalence is estimated at 1 in 5,000, many cases may be undiagnosed. Treatment focuses on pain management, physical therapy, and managing complications.
Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues like skin, joints, and blood vessels. People with Ehlers-Danlos syndrome typically have extremely flexible joints and stretchy, fragile skin that is prone to tears and unable to hold stitches. A severe form called vascular Ehlers-Danlos syndrome can cause blood vessels, intestines or the uterus to suddenly rupture, so those with it may want genetic counseling before starting a family due to risks of complications.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
John Langdon Down was a British physician who first described Down syndrome in 1866 and recognized it as a distinct medical condition; he proposed that it results from reversion to ancestral traits seen in other races. Down syndrome, also known as trisomy 21, occurs when there is an extra chromosome 21 present and results in cognitive impairment and physical characteristics including a flat facial profile, upward slanting eyes, and a short neck. The risk of Down syndrome increases with maternal age and proper prenatal screening and testing can help diagnose the condition before birth.
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,
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
This patient, a 1-year old child, presents with a history of fractures shortly after beginning to walk and a father who had multiple childhood fractures and developing hearing loss. The child has slightly blue-gray sclera and is in the 75th percentile for weight and height. Based on the history and physical exam findings, the child is suspected to have osteogenesis imperfecta (OI), a hereditary condition caused by defects in type 1 collagen resulting in bone fragility and fractures. OI can range from mild to severe and is diagnosed based on clinical and radiographic features and confirmed by genetic testing or biopsy. Treatment focuses on fracture prevention including bracing, bisphosphonates, and surgery for deformities.
1. Sweet's syndrome is an uncommon skin condition characterized by abrupt onset of tender red skin lesions and systemic symptoms. Histopathology shows a dense neutrophilic infiltrate without evidence of infection.
2. Treatment involves oral corticosteroids which provide excellent response within days to weeks. Recurrences may occur in about 30% of cases.
3. Pyoderma gangrenosum is a rare neutrophilic dermatosis presenting as painful cutaneous ulcers with undermined, irregular borders and purulent bases that may enlarge. About half of cases are associated with underlying systemic disease. Treatment focuses on controlling underlying conditions and using high-dose corticosteroids or immunosuppressants.
Hypermobile Ehlers-Danlos Syndrome & hypermobility spectrum disorders - A presentation.
I put this together for my own learning and to present to my peers. Feel free to use for teaching/education
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
This document provides information about Marfan syndrome, a genetic disorder of the connective tissue. It affects multiple body systems including the eyes, cardiovascular system, and nervous system. In the eyes, it can cause lens dislocation and retinal detachment. In the cardiovascular system, it weakens the aorta wall and increases the risk of aortic aneurysm or dissection. In the nervous system, it causes the dura surrounding the spinal cord to stretch and put pressure on the vertebrae. There is no cure for Marfan syndrome, but regular checkups and early detection/treatment of issues can help manage risks. Lifestyle adjustments and sometimes surgery may be needed depending on the specific problems present.
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase, leading to a buildup of glucocerebroside. There are three main types: type 1 is non-neuropathic and involves the spleen and bones; type 2 is infantile and causes acute neurological involvement; type 3 causes progressive neurological involvement beginning in teenage years. Symptoms include hepatosplenomegaly, bone pain, lung and kidney involvement. Treatment involves enzyme replacement therapy with recombinant enzymes or substrate reduction therapy with drugs like miglustat or eliglustat.
Epidermolysis bullosa (EB) is a group of genetic skin disorders characterized by skin fragility and blistering from minor mechanical trauma. There are several types of EB including EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. The diagnosis is based on the level within the skin that blistering occurs, as determined by immunofluorescence mapping and transmission electron microscopy of a skin biopsy. EB is managed by avoiding blistering through protective padding, preventing infection of wounds, and treating specific complications involving the eyes, esophagus, hands/feet, and risk of skin cancers in some severe types.
Ichthyoses are a group of inherited skin disorders characterized by excessive scaling of the skin. The primary ichthyoses include ichthyosis vulgaris, X-linked ichthyosis, and lamellar ichthyosis. Ichthyosis vulgaris is the most common and mildest form, inherited in an autosomal dominant pattern. X-linked ichthyosis only affects males and is caused by steroid sulfatase deficiency. Lamellar ichthyosis is a severe form present at birth that involves the entire skin surface. Treatment focuses on moisturization and keratolytic agents with systemic retinoids for more severe forms.
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
The document discusses amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive neuromuscular condition that affects motor neurons in the brain and spinal cord. Key symptoms include muscle weakness, atrophy, spasms, and increased reflexes. While sensory and cognitive functions remain intact, over time patients have increasing problems with movement, swallowing, speaking and breathing. There is currently no cure for ALS, though treatments aim to reduce symptoms and multidisciplinary care can help prolong life expectancy and quality of life. Occupational therapy focuses on maintaining independence through adaptive equipment and strategies.
DARIER’S DISEASE, Keratosis folliculiris, rare genetic disorder that is manifested predominantly by skin changes, due to ATP2A2 mutation, The histology is characteristic, known as focal acantholytic dyskeratosis associated with varying degrees of papillomatosis
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
Osteopetrosis is a rare hereditary bone disorder characterized by abnormally dense bone due to a defect in bone remodeling. There are several types including infantile, intermediate, and adult forms. Infantile osteopetrosis is the most severe type and can cause blindness, deafness, and susceptibility to infections in early infancy due to abnormal osteoclast function. Diagnosis is made through x-rays and bone biopsies, and treatment may include bone marrow transplantation while supportive care focuses on managing infections and anemia.
Osteonecrosis is a condition caused by loss of blood supply to the bone, which can lead to bone tissue death and joint collapse. It is often caused by long term steroid use or heavy alcohol use. Symptoms may include joint pain that worsens with weight bearing. Diagnosis involves x-rays, MRI, or biopsy. Treatment options range from medications and reduced activity to core decompression surgery or joint replacement depending on severity. Preventing osteonecrosis involves limiting steroid use, alcohol, and smoking.
This document provides information on several connective tissue disorders and hypermobility syndromes that can affect children, including Benign Joint Hypermobility Syndrome (BJHS), Ehlers-Danlos Syndromes (EDS), Marfan Syndrome, Loeys-Dietz Syndrome, and Stickler Syndrome. It describes the clinical features, diagnostic criteria, inheritance patterns, genetic causes, and multidisciplinary management of these conditions. Key points include that BJHS and the hypermobility type of EDS may exist on a spectrum, cardiovascular involvement is a major concern in Marfan Syndrome, Loeys-Dietz Syndrome involves severe arterial abnormalities, and Stickler Syndrome can affect the eyes, ears, skeleton
this presentation briefly discus about muscle and its related disorder. some myopathies which are common are cover here in an approach to provide basis of the same disease and treatment. this ppt is basically from chapter 32 zakazewski.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
John Langdon Down was a British physician who first described Down syndrome in 1866 and recognized it as a distinct medical condition; he proposed that it results from reversion to ancestral traits seen in other races. Down syndrome, also known as trisomy 21, occurs when there is an extra chromosome 21 present and results in cognitive impairment and physical characteristics including a flat facial profile, upward slanting eyes, and a short neck. The risk of Down syndrome increases with maternal age and proper prenatal screening and testing can help diagnose the condition before birth.
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,
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
This patient, a 1-year old child, presents with a history of fractures shortly after beginning to walk and a father who had multiple childhood fractures and developing hearing loss. The child has slightly blue-gray sclera and is in the 75th percentile for weight and height. Based on the history and physical exam findings, the child is suspected to have osteogenesis imperfecta (OI), a hereditary condition caused by defects in type 1 collagen resulting in bone fragility and fractures. OI can range from mild to severe and is diagnosed based on clinical and radiographic features and confirmed by genetic testing or biopsy. Treatment focuses on fracture prevention including bracing, bisphosphonates, and surgery for deformities.
1. Sweet's syndrome is an uncommon skin condition characterized by abrupt onset of tender red skin lesions and systemic symptoms. Histopathology shows a dense neutrophilic infiltrate without evidence of infection.
2. Treatment involves oral corticosteroids which provide excellent response within days to weeks. Recurrences may occur in about 30% of cases.
3. Pyoderma gangrenosum is a rare neutrophilic dermatosis presenting as painful cutaneous ulcers with undermined, irregular borders and purulent bases that may enlarge. About half of cases are associated with underlying systemic disease. Treatment focuses on controlling underlying conditions and using high-dose corticosteroids or immunosuppressants.
Hypermobile Ehlers-Danlos Syndrome & hypermobility spectrum disorders - A presentation.
I put this together for my own learning and to present to my peers. Feel free to use for teaching/education
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
This document provides information about Marfan syndrome, a genetic disorder of the connective tissue. It affects multiple body systems including the eyes, cardiovascular system, and nervous system. In the eyes, it can cause lens dislocation and retinal detachment. In the cardiovascular system, it weakens the aorta wall and increases the risk of aortic aneurysm or dissection. In the nervous system, it causes the dura surrounding the spinal cord to stretch and put pressure on the vertebrae. There is no cure for Marfan syndrome, but regular checkups and early detection/treatment of issues can help manage risks. Lifestyle adjustments and sometimes surgery may be needed depending on the specific problems present.
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase, leading to a buildup of glucocerebroside. There are three main types: type 1 is non-neuropathic and involves the spleen and bones; type 2 is infantile and causes acute neurological involvement; type 3 causes progressive neurological involvement beginning in teenage years. Symptoms include hepatosplenomegaly, bone pain, lung and kidney involvement. Treatment involves enzyme replacement therapy with recombinant enzymes or substrate reduction therapy with drugs like miglustat or eliglustat.
Epidermolysis bullosa (EB) is a group of genetic skin disorders characterized by skin fragility and blistering from minor mechanical trauma. There are several types of EB including EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. The diagnosis is based on the level within the skin that blistering occurs, as determined by immunofluorescence mapping and transmission electron microscopy of a skin biopsy. EB is managed by avoiding blistering through protective padding, preventing infection of wounds, and treating specific complications involving the eyes, esophagus, hands/feet, and risk of skin cancers in some severe types.
Ichthyoses are a group of inherited skin disorders characterized by excessive scaling of the skin. The primary ichthyoses include ichthyosis vulgaris, X-linked ichthyosis, and lamellar ichthyosis. Ichthyosis vulgaris is the most common and mildest form, inherited in an autosomal dominant pattern. X-linked ichthyosis only affects males and is caused by steroid sulfatase deficiency. Lamellar ichthyosis is a severe form present at birth that involves the entire skin surface. Treatment focuses on moisturization and keratolytic agents with systemic retinoids for more severe forms.
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
The document discusses amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive neuromuscular condition that affects motor neurons in the brain and spinal cord. Key symptoms include muscle weakness, atrophy, spasms, and increased reflexes. While sensory and cognitive functions remain intact, over time patients have increasing problems with movement, swallowing, speaking and breathing. There is currently no cure for ALS, though treatments aim to reduce symptoms and multidisciplinary care can help prolong life expectancy and quality of life. Occupational therapy focuses on maintaining independence through adaptive equipment and strategies.
DARIER’S DISEASE, Keratosis folliculiris, rare genetic disorder that is manifested predominantly by skin changes, due to ATP2A2 mutation, The histology is characteristic, known as focal acantholytic dyskeratosis associated with varying degrees of papillomatosis
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
Osteopetrosis is a rare hereditary bone disorder characterized by abnormally dense bone due to a defect in bone remodeling. There are several types including infantile, intermediate, and adult forms. Infantile osteopetrosis is the most severe type and can cause blindness, deafness, and susceptibility to infections in early infancy due to abnormal osteoclast function. Diagnosis is made through x-rays and bone biopsies, and treatment may include bone marrow transplantation while supportive care focuses on managing infections and anemia.
Osteonecrosis is a condition caused by loss of blood supply to the bone, which can lead to bone tissue death and joint collapse. It is often caused by long term steroid use or heavy alcohol use. Symptoms may include joint pain that worsens with weight bearing. Diagnosis involves x-rays, MRI, or biopsy. Treatment options range from medications and reduced activity to core decompression surgery or joint replacement depending on severity. Preventing osteonecrosis involves limiting steroid use, alcohol, and smoking.
This document provides information on several connective tissue disorders and hypermobility syndromes that can affect children, including Benign Joint Hypermobility Syndrome (BJHS), Ehlers-Danlos Syndromes (EDS), Marfan Syndrome, Loeys-Dietz Syndrome, and Stickler Syndrome. It describes the clinical features, diagnostic criteria, inheritance patterns, genetic causes, and multidisciplinary management of these conditions. Key points include that BJHS and the hypermobility type of EDS may exist on a spectrum, cardiovascular involvement is a major concern in Marfan Syndrome, Loeys-Dietz Syndrome involves severe arterial abnormalities, and Stickler Syndrome can affect the eyes, ears, skeleton
this presentation briefly discus about muscle and its related disorder. some myopathies which are common are cover here in an approach to provide basis of the same disease and treatment. this ppt is basically from chapter 32 zakazewski.
This document discusses collagen disorders and provides information on several specific conditions. It begins with an introduction to collagen and its roles in various tissues like skin, bone, cartilage and teeth. It then describes several heritable collagen disorders including osteogenesis imperfecta, epidermolysis bullosa, Stickler's syndrome, Marfan's syndrome, Ehlers-Danlos syndrome, systemic sclerosis, systemic lupus erythematosus, oral submucous fibrosis and scurvy. For each condition, it discusses features, classification, oral manifestations, radiographic features and histopathology.
This document discusses several single-gene disorders including cystic fibrosis, sickle cell anemia, fragile X syndrome, Huntington's disease, and muscular dystrophy. It provides details on the genetics, symptoms, inheritance patterns, and impact of each disorder. References are also included at the end related to catastrophic antiphospholipid syndrome.
Osteochondroma is a benign bone tumor that projects from the external surface of bones. It consists of a bony projection capped with cartilage. The majority of osteochondromas are solitary lesions that present during childhood in long bones like the femur or humerus. Multiple or hereditary osteochondromas can occur as part of genetic syndromes. Osteochondromas are usually asymptomatic but can cause pain or neurological symptoms from local effects. Malignant transformation is rare in solitary lesions but higher in hereditary forms. Imaging plays a key role in diagnosis and follow up, with plain radiographs, CT and MRI used to characterize lesions. Surgical excision is reserved for symptomatic osteochondromas.
This document defines genetic disorders and describes different types of genetic inheritance patterns. It discusses single gene disorders that can be dominant or recessive. It also describes chromosomal abnormalities like Down syndrome which results from an extra copy of chromosome 21. Multifactorial inheritance is explained as conditions caused by both genetic and environmental factors, like heart disease. Mitochondrial disorders are outlined as affecting mitochondrial DNA and being maternally inherited. Chromosome disorders are defined as changes in chromosome number or structure.
This document discusses several types of lytic bone lesions that can be seen on imaging. It describes the imaging appearance and characteristics of lesions such as fibrous dysplasia, adamantinoma, enchondroma, eosinophilic granuloma, giant cell tumor, and nonossifying fibroma. Discriminating features are provided to help differentiate these benign lytic lesions from other entities. The document emphasizes that clinical history including patient age is important when narrowing the differential diagnosis of lytic bone lesions seen on imaging studies.
The document discusses pH levels. pH is a measure of how acidic or basic a substance is. The pH scale ranges from 0 to 14, with 7 being neutral, numbers less than 7 being acidic, and numbers greater than 7 being basic.
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.
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
This document provides information about arthrogryposis multiplex congenita (AMC), a condition where joints are fixed in bent or straightened positions. Children with AMC may have thin, weak muscles around affected joints. The condition is caused by decreased fetal movement in the womb. Symptoms include stiff, contracted joints and muscle abnormalities. Treatment involves physical therapy and surgery to correct joint deformities. Complications can include clubfeet, dislocated hips, and respiratory issues.
This document discusses neuromuscular disorders and focuses on Duchenne Muscular Dystrophy (DMD). It defines DMD as the most prevalent and severely disabling childhood myopathy, caused by an absence of dystrophin. The progression of DMD involves increasing weakness, loss of ambulation, respiratory complications, and often death in late teens/early 20s. Physical therapy aims to prevent deformities, prolong ambulation, and control symptoms through stretching, bracing, swimming, wheelchair usage, and respiratory exercises.
Muscular dystrophy is a group of inherited disorders that cause progressive muscle weakness and loss of muscle tissue from childhood onwards. It affects skeletal muscles and can limit abilities like walking or maintaining posture. There are several types depending on the genes involved and symptoms, such as Duchenne muscular dystrophy which is the most common type affecting young boys and causing muscle degeneration and weakness starting in early childhood. It is caused by an absence of the dystrophin protein and leads to an inability to walk by the early teens and often death in the 20s from heart or lung complications.
This document discusses polydactyly, which is the congenital duplication of fingers. It begins by describing the embryology and timeline of upper limb development. It then classifies polydactyly into preaxial, central, and postaxial types based on the duplicated digit. Preaxial polydactyly, or thumb duplication, is discussed in depth, including genetics, classification systems like the Wassel classification, clinical assessment, treatment goals and surgical techniques for different types of thumb duplication. Potential complications are also mentioned.
This document summarizes several genetic conditions that can affect adolescents and adults. It discusses adolescent idiopathic scoliosis, juvenile myoclonic epilepsy, and Leydig cell hypoplasia for adolescents. For adults, it covers Parkinson's disease, Alzheimer's disease, and hereditary hemochromatosis. Each condition is described in terms of characteristics, frequency, genetic changes, and inheritance patterns. The document provides concise overviews of these genetic disorders.
This document provides information on several genetic conditions that can affect adolescents and adults. It summarizes 3 genetic conditions that can affect adolescents: adolescent idiopathic scoliosis, which causes abnormal curvature of the spine; juvenile myoclonic epilepsy, characterized by seizures beginning in childhood; and Leydig cell hypoplasia, which affects male sexual development. It also summarizes 3 conditions that can affect adults: Parkinson's disease, a progressive nervous system disorder; Alzheimer's disease, a degenerative brain disease and cause of dementia; and hereditary hemochromatosis, an iron overload disorder. For each condition, it discusses characteristics, frequency, genetic changes, and inheritance patterns.
Skeletal dysplasias are a heterogeneous group of genetic disorders that result in abnormalities of bone or cartilage growth and structure. They occur due to mutations that affect endochondral ossification. Achondroplasia is the most common type of skeletal dysplasia and dwarfism, caused by mutations in the FGFR3 gene. It is characterized by disproportionate short stature with short arms and legs, frontal bossing of the head, midface hypoplasia, spinal stenosis and risks of neurological complications. Diagnosis is based on clinical and radiological findings including characteristic changes to the long bones, skull and vertebrae.
1. Melorheostosis is a rare mesenchymal dysplasia that produces thickened bone with a characteristic dripping wax appearance, most commonly affecting the limbs.
2. It typically presents in childhood and adolescence between ages 5-20 years as limb stiffness or pain.
3. While the condition is usually asymptomatic, when symptoms do occur they include joint stiffness, contractures, pain and limb length discrepancies.
In this presentation we will discuss the role of sonographic imaging in evaluation of MSK dysplasias especially Lethal dysplasia.
We can suggest which is not compatible with life.
All four cases presented with back pain and compression fractures due to osteoporosis. However, the underlying causes of osteoporosis differed between the cases. Case 1 had Crohn's disease, Case 2 had Cushing's disease, Case 3 had T-cell lymphoma, and Case 4 had juvenile idiopathic osteoporosis. Osteoporosis results from an imbalance between bone formation and resorption leading to low bone mineral density and increased fracture risk. It can be primary or secondary to various chronic illnesses and medications. Evaluation involves assessing bone mineral density and investigating potential underlying causes.
Similar to Ehlers-Danlos Syndrome & Hypermobility (20)
2. Expected Outcomes
• Having a general understanding of what Ehlers-Danlos
Syndrome is and what the symptoms are.
• Distinguishing between the 3 most prominent types of
EDS.
• Understanding the heritability of EDS as a genetic disorder.
• Learning how to score a patient on the Beighton criteria to
determine the degree of hypermobility.
3. What is Ehlers-Danlos Syndrome?
• A group of inherited connective
tissue disorders.
• Defects in various genes that code
collagen synthesis.
• Collagen in connective tissue helps
the skin, muscles, ligaments, blood
vessels and visceral organs to resist
deformation.
• In EDS, collagen has increased
elasticity, which results in the
observed pathology.
• Severity of symptoms can range from
mild to life threatening.
a) Normal collagen fibrils
• It is often undiagnosed, or
b) Collagen fibrils in EDS (classical type)
misdiagnosed.
“The Joint Hypermobility Handbook”, Dr. Brad T. Tinkle (2010)
4. Symptoms - Hypermobility
Being able to move the joints beyond normal limits may result in chronic dislocations and
joint pain. Often patients need to invest in supportive braces to limit these injuries.
5. Symptoms – Stretchy Skin
Stretchy skin often results in poor wound healing, extensive bruising and is velvety
soft to touch.
6. Symptoms - Dysautonomia
Dysautonomia is the broad term to describe
malfunction of the autonomic nervous system.
7. Less Common Symptoms
• Low bone density
• Club foot
• Deformities of the spine,
• Chiari malformation (head & neck compression)
• Functional bowel disorders
• Dental issues
• Nerve compression disorders
• Vascular skin conditions -------------------
• Blue sclera
• Swan neck deformity of the fingers
• Insensitivity to local anaesthetics
• Premature births
• Inability of blood platelets to clump
• Weak muscle tone during infancy, delaying motor development
• Arterial/intestinal/uterine fragility or rupture
8. Types of Ehlers-Danlos Syndrome
• Classical (Types 1 & 2) involves
mostly skin related symptoms and
limited hypermobility. It affects about
1/20,000 – 50,000
• Hypermobility (Type 3) is
characterized by high hypermobility
of the joints. It affects approximately
1/10,000 – 15,000
• Vascular (Type 4) is characterized by
TW – Classic Type MV – Vascular Type the rupturing of blood vessels and
organs. It is the most severe form of
EDS. Patients of this type are usually
small in stature and may have fatal
health issues by age 40. It affects
about 1/100,000 – 200,000.
NO – Hypermobility Type
9. Autosomal Dominant Conditions
• The 3 most common types of EDS
follow the autosomal dominant
pattern of inheritance.
• There is a 50% chance of a person
with EDS having a child that also has
EDS.
• The child will be the same type as the
parent.
• They will have similar symptoms as
the affected parent, but the
symptoms may differ in degree of
severity.
10. The Beighton Score
• A popular screening technique for
hypermobility.
• Requires the performance of 9
maneuvers.
• A point is gained for each movement
that the subject can positively
perform.
• A minimum of 3 points to be
considered mildly hypermobile.
• A maximum of 9 points would
indicate extreme hypermobility.
• Is easy and quick to perform, even in
large populations.
• Movements 1-4 are performed on
both the right and left sides of the
body. Total = 9 possible points
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
11. The Beighton Score
• The ability to passively extend the
elbow to ≥ 10˚.
• One point is gained for performing
this maneuver in each of the arms.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
12. The Beighton Score
• The ability to passively appose the
thumb to the volar aspect of the
forearm.
• One point is gained for performing
this maneuver in each of the hands.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
13. The Beighton Score
• The ability to passively flex the fifth
metacarpophalangeal joint to ≥ 90˚.
• One point is gained for performing
this maneuver in each of the hands.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
14. The Beighton Score
• The ability to passively hyperextend
the knee to ≥ 10˚.
• One point is gained for the ability to
perform this maneuver in each of the
legs.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
15. The Beighton Score
• The ability to actively place BOTH
hands AND feet flat on the floor,
WITHOUT bending the knees
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
16. Summary
• EDS is an inheritable genetic disorder caused by mutation(s) in various
types of collagen.
• There is a wide range of symptoms that affect connective tissues
throughout the entire body.
• The 3 main types are classical, hypermobile and vascular.
• It is typically autosomal dominant.
• Hypermobility can be assessed using the Beighton Scale.
17. Are you Hypermobile?
• Perform each of the movements in the
Beighton Scale
• Total your points on the sheet provided
• A minimum score of 3 indicates mild
hypermobility.
• Additionally, please write one sentence
describing what you think is the most
important fact to know about EDS.