MeSH Browser

MeSH Heading: Campomelic Dysplasia
Tree Number(s): C05.660.142; C16.131.621.142
Unique ID: D055036
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D055036
Scope Note: 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.
Entry Term(s): Acampomelic Campomelic Dysplasia; Campomelic Dwarfism; Campomelic Syndrome; Camptomelic Dysplasia; Cmpd1 Sra1
See Also: Pierre Robin Syndrome
Public MeSH Note: 2009
History Note: 2009
Date Established: 2009/01/01
Date of Entry: 2008/07/08
Revision Date: 2015/10/20

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0513026
Scope Note: 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.
Terms: Campomelic Dysplasia Preferred Term
Term UI T704996
Date08/31/2007
LexicalTag NON
ThesaurusID; Cmpd1 Sra1
Term UI T000888246
Date10/20/2015
LexicalTag NON
ThesaurusID NLM (2016); Camptomelic Dysplasia
Term UI T757368
Date09/08/2009
LexicalTag NON
ThesaurusID; Campomelic Dwarfism
Term UI T841053
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Campomelic Syndrome
Term UI T841054
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Campomelic Dysplasia MeSH Descriptor Data 2025