neurofibromatosis type 1-like 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.