craniometaphyseal dysplasia, autosomal dominant
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Related to craniometaphyseal dysplasia, autosomal dominant: osteopetrosis, craniosynostosis, Cleidocranial dysplasia, Elephant man
craniometaphyseal dysplasia, autosomal dominantA 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.
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).