Craniometaphyseal dysplasia, autosomal dominant (CMDD)

Craniometaphyseal dysplasia, autosomal dominant

Craniometaphyseal dysplasia, autosomal dominant (CMDD; MIM 123000) is a sclerosing bone disorder caused by loss of function mutations in the ANKH gene. Progressive thickening of the craniofacial bones leads to sclerosis of the skull base, facial palsy, early-onset hearing loss, obliteration of the sinuses, and malocclusion and crowding of the teeth. Affected individuals typically have normal stature but display undermodeling of the tubular bones and metaphyseal flaring. Autosomal dominant craniometaphyseal dysplasia is allelic to chondrocalcinosis 2 (MIM 118600).