LEOPARD syndrome


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LEOPARD syn·drome

[MIM*151100]
syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). An autosomal dominant hereditary disorder.
Farlex Partner Medical Dictionary © Farlex 2012
An autosomal dominant [MIM 151100] condition with thousands of 1–5-mm darkly pigmented macules on the skin
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

leopard syndrome

Multiple lentigines syndrome An AD condition with thousands of 1-5 mm darkly pigmented macules on the skin, not mucosae Clinical characterized by the acronym LEOPARD–Lentigines, EKG disturbances, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia–gonadal or ovarian hypoplasia, Retarded growth, neural Deafness
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

LEOPARD syn·drome

(lep'ărd sin'drōm)
A hereditary syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural).
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

LEOPARD syn·drome

(lep'ărd sin'drōm) [MIM*151100]
Syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural).
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
This signalling cascade is also involved in many other inherited conditions such as cardiofaciocutaneous syndrome (CFCS), LEOPARD syndrome (LS), Costello syndrome (CS), and type 1 neurofibromatosis (NF1) [11] (Figure 6).
Jaxon Green-Moore, from Bradford, suffers from congenital heart disease as a direct results of his LEOPARD syndrome. His heart condition means he's in constant risk of cardiac arrest.
These disorders include neurofibromatosis type 1 (NF1, OMIM 162200), Legius syndrome (NFLS, OMIM 611431), Noonan syndrome (NS, OMIM 163950), Noonan syndrome with multiple lentigines (also called LEOPARD syndrome, LS, OMIM 151100), Costello syndrome (CS, OMIM 218040), cardiofaciocutaneous syndrome (CFCS, OMIM 115100), Noonan-like syndromes, hereditary gingival fibromatosis (HGF, OMIM 135300), and capillary malformation-arteriovenous malformation (CMAVM, OMIM 608354).
Pulmonary GCTs, like their extrapulmonary counterparts, can rarely be multifocal and have been reported to be associated with genetic mutations in PTPN11 as part of LEOPARD syndrome [2, 7].
Hypertrophic cardiomyopathy is the main manifestation of a rare inherited syndrome--the LEOPARD syndrome. This name is the acronym of the words denoting its manifestations: lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth, and deafness.
It could be associated with syndromes as in Leopard syndrome where pigmentation is seen all over the body.
LEOPARD syndrome is an acronym that also describes the pattern of pigmentation found in this familial multiple lentigenes syndrome.
The LEOPARD syndrome is a rare hereditary disorder in Asian countries.
were the first to measure an AP from hiPSCs [21], followed by the first disease-specific study modelling LEOPARD syndrome [22].
LEOPARD Syndrome with PTPN11 gene mutation showing six cardinal symptoms of LEOPARD.
The UHN study team investigated Noonan Syndrome while the Boston team investigated LEOPARD Syndrome.
Many patients thought to have LEOPARD syndrome have been recognized to have Watson syndrome, a condition that presents with pulmonary stenosis and inherited lentiginosis but is actually a form of neurofibromatosis type 1 (NF-1).