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Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)

Kendra Flores, MS, CGC and Beverly N. Hay, MD Reviewed 06/2019
 


BASICS

  • 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

  • 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...

TREATMENT

Most patients are able to live normal lives and have a normal lifespan; treatment of individual manifestations as in the general population 
  • Cardiovascular abnormalities

  • Cryptorchidism

  • Hearing ...

ONGOING CARE

  • 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...

REFERENCES

1
Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome. Am J Dis Child.  1969;117(6):652–662. [View Abstract on OvidMedline]
2
Ogata T, Yoshida R. PTPN11 mutations and genotype-ph...

ADDITIONAL READING

Porciello R, Divona L, Strano S, et al. LEOPARD syndrome. Dermatol Online J.  2008;14(3):7. [View Abstract on OvidMedline] 

CODES

ICD10

Q87.1 Congenital malform syndromes predom assoc w short stature 

ICD9

759.89 Other specified congenital anomalies 

SNOMED

  • 205824006 Noonan’s syndrome (disorder)

  • 111306001 Multiple lentigines syn...

CLINICAL PEARLS

  • 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...

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