Campomelic dysplasia

MONDO:0007251

Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Also known as: CMD, Campomelic Syndrome, campomelic dwarfism, campomelic dysplasia, acampomelic campomelic dysplasia, CMPD1, Cmd1, Cmpd

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