Dwarfism
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The document discusses dwarfism, including its definition, causes, myths, and some facts about the shortest people in the world. Dwarfism is defined as a lack of growth resulting in a height of under 5 feet for males and 4 feet 8 inches for females. The most common cause is achondroplasia, a genetic condition that affects bone growth. Some common myths about dwarfism are that dwarfs are not intelligent, do not live long, or should not attend school or work, but these are incorrect. The document also lists some of the shortest people ever recorded.
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acromegaly,gigantism and dwarfism
This document discusses several types of dwarfism, including pituitary dwarfism, achondroplasia, and dystrophic dysplasia. Achondroplasia is the most common type of dwarfism, accounting for half of all cases, and is characterized by short limbs and a slightly enlarged head. Dystrophic dysplasia was once thought to be a form of achondroplasia, and individuals with this type can experience respiratory and orthopedic problems requiring surgery. Dwarfism is typically diagnosed in childhood based on visible symptoms, and genetic testing and diagnostic imaging can aid in determining the specific type.
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.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Approach to the dysmorphic child
1. A thorough evaluation of the dysmorphic child includes obtaining a detailed family, birth, and medical history as well as a comprehensive physical exam.
2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
Dwarfism Biology
Dwarfism is a genetic disorder characterized by abnormally short stature, with an adult height of 148 cm (4 feet 10 inches) or less. It has many potential causes, most commonly achondroplasia which accounts for 70% of cases. Dwarfism affects less than 200,000 people worldwide and has a prevalence rate of 0.5 to 1.5 in 10,000 births for achondroplasia. Common signs include short stature, large head, bowed legs, and joint issues. Complications can include obstetric difficulties, neurological problems, and osteoarthropathy of the knee joints. Support groups for dwarfism include the Restricted Growth Association and Little People of America.
Dysmorphism
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
18. gatbonton dwarfism
Achondroplasia is the most common type of dwarfism, caused by a mutation in the FGFR3 gene. It is characterized by an average height of 4 feet, with short arms and legs and a large head. It is inherited in an autosomal dominant pattern and causes disproportionate skeletal growth with bowed legs and short stature.
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Dwarfism can be caused by factors like diet, sleep, hormones, and genetic mutations, and results in short stature under 4'10", potential health issues like sleep apnea and joint problems, and developmental delays. Doctors can treat underlying causes through nutrition, surgery, hormone therapy, and limb lengthening to help patients live healthy lives, and genetic counseling and testing may help predict conditions and prevent future cases.
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acromegaly,gigantism and dwarfism
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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.
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2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
Dwarfism Biology
Dwarfism is a genetic disorder characterized by abnormally short stature, with an adult height of 148 cm (4 feet 10 inches) or less. It has many potential causes, most commonly achondroplasia which accounts for 70% of cases. Dwarfism affects less than 200,000 people worldwide and has a prevalence rate of 0.5 to 1.5 in 10,000 births for achondroplasia. Common signs include short stature, large head, bowed legs, and joint issues. Complications can include obstetric difficulties, neurological problems, and osteoarthropathy of the knee joints. Support groups for dwarfism include the Restricted Growth Association and Little People of America.
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Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
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Achondroplasia
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.
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.
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“The aggregate of signs & symptoms associated with any morbid process & constituting together the picture of the disease and related to each other anatomically, biochemically or physiologically”
A group of deformations and malformation sequences, etc. that occur together due to some identifiable underlying cause.
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Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
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This document discusses achondroplasia, the most common type of dwarfism. It is caused by a mutation in the FGFR3 gene which regulates bone growth. People with achondroplasia have short stature, large head, short arms and legs, bowed legs, and other skeletal abnormalities. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the Fibroblast Growth Factor Receptor 3 gene which affects bone and brain development.
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Down syndrome is caused by having 47 chromosomes instead of the typical 46, known as trisomy. Historically, those with Down syndrome had a low life expectancy of only 9 years due to abuse and ridicule, but now about one in seven babies are born with it. Those with Down syndrome have an increased risk of health issues like heart disease, intestinal problems, and vision or hearing impairment. Physical characteristics can include a flattened face, small head, short neck, and enlarged tongue and lips.
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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.
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There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
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.
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1. The document discusses an algorithmic approach to diagnosing malformed infants and children. It addresses dysmorphology versus inborn errors of metabolism, the importance of history and examination findings, and classifications of malformations.
2. Key classifications discussed include deformations, disruptions, dysplasias, and malformation syndromes. Flow charts are provided to guide clinicians through assessing number of malformations, tissues involved, tissue damage, and joint/bone involvement to determine classification.
3. Examples are given to demonstrate the application of the algorithm, such as identifying achondroplasia as a skeletal dysplasia based on involvement of one tissue with intact bones and joints. The importance of a systematic approach and differential diagnosis
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Achondroplasia
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.
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.
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.
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.
191022 achondroplasia
Achondroplasia is the most common congenital dwarfism characterized by shortening of the long bones, especially the proximal ones, leading to an abnormal gait. The hands have a distinctive trident appearance caused by widening between the third and fourth digits. It results from a failure of normal cartilage growth at the growth plates of bones.
Syndrome / Head and Neck Syndrome
SYN= TOGETHER ,DROMOS= A RUNNING
“The aggregate of signs & symptoms associated with any morbid process & constituting together the picture of the disease and related to each other anatomically, biochemically or physiologically”
A group of deformations and malformation sequences, etc. that occur together due to some identifiable underlying cause.
Syndromes can be caused by chromosomes anomalies, single genes mutations, teratogens, or other causes.
Approach to dysmorphic child
This document discusses an approach to evaluating children with dysmorphic features or congenital anomalies. It begins by outlining common birth defects, their estimated incidences, and potential causes. It then describes the goals and purposes of a dysmorphology evaluation, including establishing diagnoses, determining recurrence risks, and providing management and counseling. The rest of the document discusses specific aspects of evaluating congenital anomalies, such as recognizing normal and abnormal phenotypic variation, determining whether features are isolated or represent a genetic syndrome, and managing patient care.
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Sajjad.moradi
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Growth hormone (applied physiology)
1. The document discusses growth hormone hypersecretion and hyposecretion disorders including gigantism, acromegaly, dwarfism, acromicria, and Simmond's disease.
2. It provides details on the causes, signs and symptoms, and treatment of each condition.
3. Key points include that gigantism results from growth hormone hypersecretion before epiphyseal closure, leading to excessive growth, while acromegaly occurs after closure and results in thickening of bones and tissues. Dwarfism is caused by growth hormone deficiency as a child.
GLUTAMINE IN NUTRITIONAL MANANGMENT
This document presents information about glutamine in nutrition management. It discusses glutamine as the most abundant amino acid in the body, which can be synthesized and is not essential to the diet. It serves various functions including protein synthesis, acid-base regulation, and as an energy source. The document outlines glutamine producers, consumers, dietary sources, metabolism, medical uses including for cancer and HIV/AIDS patients, and roles in cellular protection, gut barrier function, immune modulation, and oxidative stress. The document also discusses glutamine supplementation for athletes to boost performance and recovery.
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Pain physiology
1) Pain physiology involves transduction, transmission, perception, and modulation of nociceptive signals from the periphery to the brain.
2) Pain signals are transmitted via Aδ and C nerve fibers to the spinal cord and then to the brain. Aδ fibers transmit fast, sharp pain while C fibers transmit slow, dull pain.
3) Central modulation occurs in the spinal cord and brain and can either facilitate or inhibit pain transmission and perception through mechanisms like windup, sensitization, and the release of neurotransmitters.
Gigantism
Gigantism is caused by an excess of growth hormone, usually from a noncancerous tumor on the pituitary gland. Symptoms include above average height, delayed puberty, vision problems, headaches, and large hands and feet. Diagnosis involves CT/MRI scans and blood tests showing high growth hormone and IGF-1 levels. Treatment options include medications, radiation therapy, and surgery to remove the tumor.
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