Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized by abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs. The skull, the nerves that leave it and the limb bones are therefore all involved. This entry records what the source lead supports and is not medical advice; the inheritance patterns tied to each gene, the age of onset, frequency and management are left for later depth work.