LEOPARD syndrome

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).

Synopsis

 lentigines
 cafe-au-lait spots
 facial anomalies
 cardiac anomalies

• electrocardiographic-conduction abnormalities

 ocular hypertelorism
 pulmonary stenosis
 abnormal genitalia
 growth retardation
 sensorineural deafness

Associations

 acute myelomonocytic leukemia (AML-M4) (16679933)

Etiology

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

• ML/LEOPARD syndrome and Noonan syndrome are allelic diseases

Differential diagnosis

 Noonan syndrome (NS) (allelic diseases)

References

 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)