Campomelic Dysplasia [kampomelická dysplazie]
- Terms
-
akampomelická kampomelická dysplazie
kamptomelická dysplazie
-
Acampomelic Campomelic Dysplasia
Campomelic Dwarfism
Campomelic Syndrome
Camptomelic Dysplasia
Cmpd1 Sra1
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.
- DUI
- D055036 MeSH Browser
- CUI
- M0513026
- History note
- 2009
- Public note
- 2009
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 1
- 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
Campomelia Cumming type Disease MeSH Browser
Campomelic Dysplasia with Autosomal Sex Reversal Disease MeSH Browser
Camptomelic syndrome long limb type Disease MeSH Browser
Dyssegmental dysplasia, Rolland-Desbuquois type Disease MeSH Browser
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome Disease MeSH Browser
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies Disease MeSH Browser