neurofibromatosis type 1-like syndrome

(redirected from Legius syndrome)

neurofibromatosis type 1-like syndrome

A 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
Caused by defects of SPRED1, which encodes a protein of the sprouty family that is phosphorylated by tyrosine kinase in response to certain growth factors.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Legius syndrome is a condition resulting from mutations of the Spred1 gene; symptoms include freckles, learning disabilities and attention-deficit hyperactivity disorder (ADHD).
In the latter, tumor growths are common, whereas in Legius syndrome they are absent.
The researchers investigated the connection between Spred1 deficiency and Legius syndrome and found that Spred1 does not play the role of a conventional tumor suppressor.
Legius syndrome is a more recently defined NF1-like syndrome, which also is characterized by multiple CALMs with or without intertriginous freckling, although both are often fewer than in patients with true NF1.
GOTHENBURG, SWEDEN -- Legius syndrome, first described only 3 years ago, can be easily misdiagnosed as neurofibromatosis type 1.
While Legius syndrome and neurofibromatosis type 1 (NF1) share several phenotypic features, Legius syndrome, unlike NF1, does not carry an increased cancer risk.
2007;39:1120-6) at the Catholic University of Leuven (Belgium), the hallmarks of Legius syndrome include multiple cafe au lait macules, axillary freckling, and autosomal dominant transmission, all of which are also among the NF1 diagnostic criteria established by the National Institutes of Health (JAMA 1997;278:51-7).
But patients with Legius syndrome do not develop any other characteristic findings of NF1, such as bone lesions, plexiform or cutaneous neurofibromas, Lisch nodules in the iris, and nervous system tumors.