autosomal dominant craniometaphyseal dysplasia

A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.

Signs and symptoms

• Increased circulating osteocalcin level
• Elevated circulating alkaline phosphatase concentration
• Delayed eruption of primary teeth
• Tinnitus
• Narrow internal auditory canal
• Hypertelorism
• Cranial hyperostosis
• Posteriorly rotated ears
• Feeding difficulties
• Visual fixation instability