craniometaphyseal dysplasia—autosomal recessive

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craniometaphyseal dysplasia—autosomal recessive2016-11-25T12:56:49+00:00

craniometaphyseal dysplasia—autosomal recessive

GENETICS

An osteochondrodysplasia (OMIM:218400) characterised by hyperostosis and sclerosis of the craniofacial bones associated with abnormal metaphyseal modelling. Sclerosis of the skull may lead to mandibular asymmetry and cranial nerve compression, which may lead to hearing loss and facial palsy. 

Molecular pathology Defects of GJA1, which encodes a gap junction family protein (connexin) thought to play a crucial role in the synchronised contraction of the heart and in embryonic development, cause craniometaphyseal dysplasia—autosomal recessive.

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/218400

 

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