[MIM 611 431]

(NF1-like syndrome, neurofibromatosis 1-like syndrome)

Extremely rare. Autosomal dominant transmission of a mutation of the SPRED1 gene on 15q13.2. This gene codes for a protein of the RAS-MAPK pathway. This syndrome is therefore part of the family of the RASopathies (see this term). The clinical picture is close to neurofibromatosis type I (see this term) but less severe:

-        cafe-au-lait spots with or without lentigines at the axillae and groin level

-        moderate dysmorphism: hypertelorism, macrocephaly

-        lipomas

-        learning disabilities and attention disorders.

There are no neurofibromas, no glioma of the optic nerve and no predisposition to develop tumors.

Anesthetic implications:

mild facial dysmorphism

References : 

-         Verloes A, Cave H. Syndrome de Noonan et RASopathies apparentées, 
In Syndromes dysmorphiques, édité par D Lacombe et N Philip, Série Progrès en Pédiatrie, Doin 2013, p 13-26.

Updated: February 2019