NIH Rare Diseases

Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities. Last updated: 4/11/2016

MalaCards based summary

Craniometaphyseal Dysplasia, Autosomal Recessive, also known as craniometaphyseal dysplasia, autosomal recessive type, is related to craniometaphyseal dysplasia, autosomal dominant, and has symptoms including macrocephaly, hypertelorism and facial palsy. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include bone.

OMIM

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. (218400)

UniProtKB/Swiss-Prot

Craniometaphyseal dysplasia, autosomal recessive: 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.