Preferred Label : Campomelic dysplasia;
ICD-11 definition : Campomelic dysplasia is a very rare disorder characterised 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).;
ICD-11 synonym : Campomelic dwarfism;
Origin ID : 913761638;
Automatic exact mappings (from CISMeF team)
Campomelic dysplasia is a very rare disorder characterised 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).
