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Descriptor English: Campomelic Dysplasia
Descriptor Spanish: Displasia Campomélica
Descriptor displasia campomélica
Scope note: Trastorno congénito de la CONDROGÉNESIS y la OSTEOGÉNESIS caracterizado por hipoplasia de huesos endocondrales. En la mayoría de los casos existe una curvatura de los huesos largos, especialmente la TIBIA, con abolladuras de la piel sobre las áreas curvadas, malformación de la pelvis y la columna vertebral, 11 pares de costillas, escápula hipoplásica, pie equinovaro, micrognatia, FISURA PALATINA, traqueobroncomalacia y, en algunos pacientes, reversión sexual de varón a hembra (REVERSIÓN SEXUAL GONADAL). La mayoría de los pacientes fallecen durante el periodo neonatal por dificultad respiratoria. La displasia campomélica está asociada con insuficiencia haploide del gen del FACTOR DE TRANSCRIPCIÓN SOX9.
Descriptor Portuguese: Displasia Campomélica
Descriptor French: Dysplasie campomélique
Entry term(s): 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(s): C05.660.142
C16.131.621.142
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2009
History Note: 2009
Related: Pierre Robin Syndrome MeSH
DeCS ID: 53074
Unique ID: D055036
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2009/01/01
Date of Entry: 2008/07/08
Revision Date: 2015/10/20
Campomelic Dysplasia - Preferred
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.
Preferred term Campomelic Dysplasia
Entry term(s) Campomelic Dwarfism
Campomelic Dwarfisms
Campomelic Dysplasias
Campomelic Syndrome
Campomelic Syndromes
Camptomelic Dysplasia
Camptomelic Dysplasias
Cmpd1 Sra1
Cmpd1 Sra1s
Dwarfism, Campomelic
Dwarfisms, Campomelic
Dysplasia, Campomelic
Dysplasia, Camptomelic
Dysplasias, Campomelic
Dysplasias, Camptomelic
Sra1, Cmpd1
Sra1s, Cmpd1
Syndrome, Campomelic
Syndromes, Campomelic
Acampomelic Campomelic Dysplasia - Narrower
Concept UI M0513027
Scope note A rarer variant of campomelic dysplasia. The characteristics match campomelic dysplasia except that long bone curvature is not present (acampomelia).
Preferred term Acampomelic Campomelic Dysplasia
Entry term(s) Acampomelic Campomelic Dysplasias
Campomelic Dysplasia, Acampomelic
Campomelic Dysplasias, Acampomelic
Dysplasia, Acampomelic Campomelic
Dysplasias, Acampomelic Campomelic



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