Kyphomelic dysplasia

Alternate names[edit | edit source]

Bowing, congenital, with short bones; Congenital bowing with short bones

Definition[edit | edit source]

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features.

NIH genetic and rare disease info[edit source]

NIH info on Kyphomelic dysplasia

Kyphomelic dysplasia is a rare disease.

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Rare diseases - Kyphomelic dysplasia
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine