Raine syndrome

Raine syndrome2016-11-27T21:42:50+00:00

Raine syndrome 

ORTHOPAEDICS

An autosomal recessive condition (OMIM:259775) characterised by bone dysplasia of neonatal onset and aggressive clinical behaviour that usually leads to death shortly after birth, with rare cases surviving into childhood.

The characteristic periosteal bone formation seen in Raine syndrome differentiates it from osteopetrosis and other lethal and nonlethal osteosclerotic bone dysplasias.

Imaging Global increase in bone density and a marked increase in skull and facial bone ossification, resulting in typical facies–narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia.

Molecular pathology Defects of FAM20C, which encodes a calcium-binding kinase of the FAM20 family of secreted proteins, cause Raine syndrome. 

Synonym Osteosclerotic bone dysplasia—lethal 

References http://www.uniprot.org/uniprot/Q8IXL6

http://www.omim.org/entry/259775

 

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