Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)

Noonan syndrome with multiple lentigines (NSML), commonly known as LEOPARD syndrome, is a genetically heterogeneous syndrome caused by a mutation in one of four distinct genes.

Cardinal features...

Diagnosis is made either on clinical grounds or by identification of a pathogenic variant in PTPN11, RAF1, BRAF, or MAP2K1 by molecular genetic testing.

Many features develop during puberty o...

Cardiovascular abnormalities

Cryptorchidism

Hearing ...

Management of individuals with NSML is based on the phenotype rather than on the molecular diagnosis per se.

Cardiac conduction abnormalities merit special attention.

Monitor lentigines for...

205824006 Noonan’s syndrome (disorder)

111306001 Multiple lentigines syndrome

NSML is an autosomal dominant genetic disorder; typically, the diagnosis is made either on clinical grounds or by identification of a pathogenic variant in PTPN11, RAF1, BRAF, or MAP2K...