Achondroplasia - Wikipedia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] . It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] . In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3] .
Achondroplasia: Symptoms, Treatment, Causes & Diagnosis - Cleveland Clinic
2021年12月10日 · Achondroplasia is a bone growth disorder that results in dwarfism due to a genetic mutation in the arms and legs. Achondroplasia is the most common form of short stature (adults less than 4-ft. 10-in. in height). Almost all children with achondroplasia are able to live full and healthy lives after diagnosis. What is achondroplasia?
Achondroplasia: MedlinePlus Genetics
Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. Variants (also called mutations) in the gene cause achondroplasia. The gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.
Achondroplasia - Johns Hopkins Medicine
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate.
Achondroplasia: Causes, Symptoms, and Diagnosis - Healthline
2017年4月27日 · Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia...
Achondroplasia - StatPearls - NCBI Bookshelf
2023年8月23日 · Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. It is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) and has an autosomal dominant inheritance.
Achondroplasia - Symptoms, Causes, Treatment | NORD
2023年11月17日 · Learn about Achondroplasia, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and.
Achondroplasia - GeneReviews® - NCBI Bookshelf - National …
1998年10月12日 · Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion.
Orphanet: Achondroplasia
Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, encoding a transmembrane receptor that is important in regulating linear bone growth, among other functions. Almost all mutations affect a specific glycine that is substituted to an arginine (G380R), leading to a gain of function mutation.
Achondroplasia | About the Disease | GARD - Genetic and Rare …
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence.
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