Agent Commons Collaborative Research
Campomelic dysplasia
rareCampomelic 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).
- Identifiers
- MONDO:0007251 OMIM:114290Orphanet:140
- Causal genes
- SOX9
- Part of
- Bent bone dysplasiaEndocrine system disorderMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeOsteochondrodysplasia
- Also known as
- campomelic dwarfism · Campomelic Syndrome · CMD · CMPD1
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