Achondroplasia

General: Dwarfism; etiology unknown; occurs in bot 232h76c h sexes; inheritance is autosomal dominant with almost complete penetrance; characterized by rhizomelic dwarfism (reduction most marked in the proximal limbs); mid-face hypoplasia; exaggerated lumbar lordosis; limitation of hip and elbow expansion; location of achondroplastic gene reported to be in the short arm of chromosome 1.

Ocular: Strabismus; optic atrophy; hypermetropia.

Clinical: Osseous impingement upon cranial nerves; rhizomelic short stature; facial features include frontal bossing, depressed nasal bridge, relative mandibular prognathism; connective tissue dysplasia; hypotonic in infancy; paraplegia may develop in second or third decade.

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McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Verloes A, et al. Neuroblastoma in a dwarfed newborn: possible clue to the chromosomal localization of the gene for achondroplasia? Am Genet