Legius syndrome

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Legius syndrome2016-11-26T21:09:43+00:00

Legius syndrome 

EMBRYOLOGY, NEUROLOGY

A hereditary disorder (OMIM:611431) characterised by cafe au lait macules without neurofibromas or other manifestations of neurofibromatosis type 1. Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.

Molecular pathology Defects of SPRED1, which encodes a protein of the sprouty family that is phosphorylated by tyrosine kinase in response to certain growth factors, cause Legius syndrome. 

Synonym Neurofibromatosis type 1-like syndrome

References http://www.uniprot.org/uniprot/Q7Z699

http://www.omim.org/entry/611431

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