Achondroplasia D000130

Description

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)   MeSH

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Subtype Terms (1)


Phase 3 Indicated Drugs (1)

Phase 1 Indicated Drugs (1)

Other Experimental Indicated Drugs (1)


Organization Involved with Phase 3 Indications (1)

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UMLS Data


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