Descriptors Found: 1
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Descriptor English:   Campomelic Dysplasia 
Descriptor Spanish:   Displasia Campomélica 
Descriptor Portuguese:   Displasia Campomélica 
Synonyms English:   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  
Tree Number:   C05.660.142
Definition English:   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. 
See Related English:   Pierre Robin Syndrome
History Note English:   2009 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53074 
Unique Identifier:   D055036 

Occurrence in VHL: