- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > LEOPARD syndrome

LEOPARD syndrome

Monday 17 November 2003

LEOPARD is an acronym for: multiple Lentigines, Electrocardiographic-conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness).

LEOPARD syndrome is an autosomal dominant condition characterized by lentigines and cafe au lait spots, facial anomalies, cardiac defects that shares several clinical features with Noonan syndrome (NS).


- lentigines
- cafe-au-lait spots
- facial anomalies
- cardiac anomalies

  • electrocardiographic-conduction abnormalities

- ocular hypertelorism
- pulmonary stenosis
- abnormal genitalia
- growth retardation
- sensorineural deafness


- acute myelomonocytic leukemia (AML-M4) (16679933)


- mutation in the PTPN11 gene (MIM.176876) (12058348)

  • ML/LEOPARD syndrome and Noonan syndrome are allelic diseases

Differential diagnosis

- Noonan syndrome (NS) (allelic diseases)


- Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). Kato H, Yoshida R, Tsukamoto K, Suga H, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K. Int J Dermatol. 2010 Oct;49(10):1146-51. PMID: 20883402

- A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. Eur J Hum Genet. 2004 Dec;12(12):1069-72. PMID: 15470362 (Free)