Campomelic Dysplasia


Acampomelic Campomelic Dysplasia

Acampomelic Campomelic Dysplasias

Campomelic Dwarfism

Campomelic Dwarfisms

Campomelic Dysplasia, Acampomelic

Campomelic Dysplasias

Campomelic Dysplasias, Acampomelic

Campomelic Syndrome

Campomelic Syndromes

Camptomelic Dysplasia

Camptomelic Dysplasias

Cmpd1 Sra1

Cmpd1 Sra1s

Dwarfism, Campomelic

Dwarfisms, Campomelic

Dysplasia, Acampomelic Campomelic

Dysplasia, Campomelic

Dysplasia, Camptomelic

Dysplasias, Acampomelic Campomelic

Dysplasias, Campomelic

Dysplasias, Camptomelic

Sra1, Cmpd1

Sra1s, Cmpd1

Syndrome, Campomelic

Syndromes, Campomelic

A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.