Achondroplasia is a common form of dwarfism or short stature due to an autosomal dominant mutation (a mutation on one of the first 22 "non-sex" chromosomes) that causes an individual to have short stature with disproportionately short arms and legs, a large head, and distinctive facial features, including a prominent forehead and a flattened midface. Gale Encyclopedia of Genetic Disorders Part I
Achondroplasia is the most common cause of dwarfism, or significantly abnormal short stature. Gale Encyclopedia of Medicine
This chondrodystrophy, characterized by an abnormality in conversion of cartilage to bone, is the most common form of short-limb dwarfism; characterized by short stature with rhizomelic shortening of the limbs, large head with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, trident hand, characteristic radiographic skeletal findings, and neurologic symptoms complicating hydrocephalus and spinal canal stenosis. Autosomal dominant inheritance with most cases sporadic, caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3) on chromosome 4p.G. a- priv. + chondros, cartilage, + plasis, a molding Stedman's Medical Dictionary, 28th Edition. 2006 Lippincott Williams & Wilkins
Pronunciation
ā-kon′drō-plā′zē-ă
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