craniometaphyseal dysplasia, autosomal dominant

craniometaphyseal dysplasia, autosomal dominant

A rare autosomal dominant skeletal disorder (OMIM:123000) characterised by abnormal bone formation and mineralisation of membranous and endochondral bones with progressive bone thickening and narrowing of cranial foramina, leading to visual and neurologic impairment, facial palsy and deafness.

Molecular pathology
Caused by defects of ANK1, which encodes a multipass transmembrane protein expressed in joints and other tissues that regulates intra- and extracellular levels of inorganic pyrophosphate (PPi).