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 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] .

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 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.

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 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.

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...

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 a gene alteration (mutation) in the FGFR3 gene.

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 osteochondrodysplasias. These rare genetic disorders cause problems with the development of bone, cartilage, and connective tissue.

2024年5月1日 · Achondroplasia is a genetic (inherited) condition that results in abnormally short stature and is the most common cause of short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4 inches) in males and 124 cm (49 inches, or 4 foot 1 inch) in females.