Preferred Label : Craniometaphyseal dysplasia, autosomal recessive;
Symbol : CMDR;
CISMeF acronym : CMDR;
Type : Phenotype, molecular basis known;
Description : Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis
and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial
nerve compression, that may finally result in hearing loss and facial palsy (summary
by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000)
and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports
that made it evident that the dominant form is relatively mild and comparatively common,
whereas the recessive form is rare, severe, and possibly heterogeneous.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the gap junction protein, alpha-1 gene (GJA1, 121014.0021);
Prefixed ID : #218400;
Origin ID : 218400;
UMLS CUI : C2931244;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)