Craniometaphyseal Dysplasia, Autosomal Dominant

Overview

Type of disease: Rare conditions

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 condition is caused by mutations in the ANKH gene. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.

 

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

Connect. Empower. Inspire.