Achondroplasia: Symptoms, Treatment, Causes & Diagnosis - Cleveland Clinic
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 …
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 …
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 …
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 - 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 …
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 …
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 - Children's Hospital of Philadelphia
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 …
About Achondroplasia - National Human Genome Research …
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. …
Achondroplasia: MedlinePlus Medical Encyclopedia
2023年11月18日 · Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. Achondroplasia is one of a group of conditions called chondrodystrophies or …