Campomelic Dysplasia

Campomelisk dysplasi

Engelsk definition

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.

Svenska synonymer

Campomel dysplasi

Engelska synonymer

Campomelic Dysplasias Dysplasia, Campomelic Dysplasias, Campomelic Campomelic Syndrome Campomelic Syndromes Syndrome, Campomelic Syndromes, Campomelic Campomelic Dwarfism Campomelic Dwarfisms Dwarfism, Campomelic Dwarfisms, Campomelic Cmpd1 Sra1 Cmpd1 Sra1s Sra1, Cmpd1 Sra1s, Cmpd1 Camptomelic Dysplasia Camptomelic Dysplasias Dysplasia, Camptomelic Dysplasias, Camptomelic Acampomelic Campomelic Dysplasia Acampomelic Campomelic Dysplasias Campomelic Dysplasia, Acampomelic Campomelic Dysplasias, Acampomelic Dysplasia, Acampomelic Campomelic Dysplasias, Acampomelic Campomelic