Achondroplasia - Wikipedia
网页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
网页2021年12月10日 · Achondroplasia occurs when cartilage tissue doesn't develop in the bones of your arms and legs. This genetic disorder leads to short-limb dwarfism with the upper parts of arms and legs shorter than the lower portions of …
Achondroplasia - Johns Hopkins Medicine
网页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: MedlinePlus Genetics
网页Achondroplasia is a form of short-limbed dwarfism. Explore symptoms, inheritance, genetics of this condition.
Achondroplasia - StatPearls - NCBI Bookshelf
网页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.
About Achondroplasia - National Human Genome Research …
网页2016年7月15日 · Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. What is achondroplasia? Achondroplasia is caused by …
Achondroplasia - Children's Hospital of Philadelphia
网页Achondroplasia is a group of rare genetic (inherited) bone disorders. Achondroplasia is the most common type of what was once called dwarfism, in which the child's arms and legs are short in proportion to body length.
Achondroplasia: Causes, Symptoms, and Diagnosis - Healthline
网页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 are short in...
Achondroplasia - GeneReviews® - NCBI Bookshelf
网页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.
Achondroplasia - OrthoInfo -AAOS
网页Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities.
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