Craniometaphyseal dysplasia, autosomal recessive type

Disease Overview

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.[2503] The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner.[11204] Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities.[11205] 

Synonyms

• CMDR