Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a congenital skeletal disease. Characteristic of the disorder is progressive hyperostosis and sclerosis of the skull and facial bones, as well as a deformation of the metaphyses of the long bones.

The disease manifests in infancy, not directly after birth. Inheritance is either autosomal recessive or autosomal dominant, the latter being more common.

Patients initially suffer from hypertelorism, paranasal beads, and choana constriction, but these features become weaker with age.

Through hyperostosis of the facial bones sufferers have a prominent forehead and protegenia. In addition, this may also cause cranial nerve paresis, which may result in disorders of olfaction, hearing and vision.

The expansion of the metaphyses leads in childhood bottle-like and in adults too clunk-looking bones. The syndrome is clinically variable in each patient.

In the autosomal recessive form, facial changes appear more pronounced than in the autosomal dominant form.