autosomal dominant craniodiaphyseal dysplasia

A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.

Signs and symptoms

• Cortical sclerosis
• Elevated circulating alkaline phosphatase concentration
• Concave nasal ridge
• Headache
• Choanal stenosis
• Elevated circulating parathyroid hormone level
• Papilledema
• Craniofacial osteosclerosis
• Craniofacial hyperostosis
• Depressed nasal bridge