Coffin-Lowry syndrome

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Coffin-Lowry syndrome2016-11-25T12:19:09+00:00

Coffin-Lowry syndrome

GENETICS

Definition A rare X-linked recessive disorder (OMIM:303600) characterised by coarse facies with bulbous nose, large ears, and thick lips, impaired hearing, short stature, tapered fingers, progressive skeletal defects, growth and mental retardation and paroxysmal movement.

Molecular pathology Defects of RPS6KA3, which encodes a ribosomal S6 kinase type serine/threonine kinase that  plays a role in controlling cell growth and differentiation, cause Coffin-Lowry syndrome. 

Synonym Mental retardation with osteocartilaginous anomalies 

Reference http://www.uniprot.org/uniprot/P51812

http://www.omim.org/entry/303600 

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