Craniometaphyseal dysplasia, autosomal dominant

Disease Overview

Autosomal dominant 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).[2503][2504] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.[2503] If untreated, compression of the cranial nerves can be disabling.[2504] The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner.[2503][2504] Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.[2504]

Synonyms

• CMDD
• CMD
• CMDJ
• Craniometaphyseal dysplasia Jackson type