Preferred Label : campomelic dysplasia;

MeSH 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.;

MeSH synonym : dysplasia, campomelic; dysplasias, campomelic; campomelic dysplasias; camptomelic dysplasia; camptomelic dysplasias; dysplasia, camptomelic; dysplasias, camptomelic; campomelic syndrome; campomelic dwarfism; Campomelic Syndromes; Syndrome, Campomelic; Syndromes, Campomelic; Campomelic Dwarfisms; Dwarfism, Campomelic; Dwarfisms, Campomelic; Cmpd1 Sra1; Cmpd1 Sra1s; Sra1, Cmpd1; Sra1s, Cmpd1;

CISMeF acronym : Cmpd1/Sra1;

MeSH hyponym : acampomelic campomelic dysplasia; Acampomelic Campomelic Dysplasias; Campomelic Dysplasia, Acampomelic; Campomelic Dysplasias, Acampomelic; Dysplasia, Acampomelic Campomelic; Dysplasias, Acampomelic Campomelic;

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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.

http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/campomelic-dysplasia.aspx
2012
false
true
false
Canada
French
campomelic dysplasia
scientific and technical information
child
image
campomelic dysplasia

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=140
2007
France
French
rare diseases
campomelic dysplasia
scientific and technical information

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27/07/2025


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