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.

LEOPARD syndrome

a hereditary syndrome transmitted as an autosomal-dominant trait, consisting of multiple lentigines, asymptomatic cardiac defects, and typical coarse facies. It may also be associated with pulmonary stenosis, sensorineural hearing loss, skeletal changes, ocular hypertelorism, and abnormalities of the genitalia. Also called multiple lentigines syndrome.
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LEOPARD syndrome
An autosomal dominant [MIM 151100] condition with thousands of 1–5-mm darkly pigmented macules on the skin

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

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).

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).
References in periodicals archive ?
Jaxon Green-Moore, from Bradford, suffers from congenital heart disease as a direct results of his LEOPARD syndrome.
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).
Nearly 90% of the LEOPARD syndrome cases and 45% of Noonan's syndrome cases are caused by missense mutations in PTPN11 encoding the SHP2 tyrosine phosphatase.
Multiple non-GI GCTs have been described in patients with LEOPARD syndrome and Noonan syndrome, both autosomal-dominantly transmitted conditions characterized by mutation in the protein tyrosine phosphatase, nonreceptor type 11 gene (PTPN11).
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.
LEOPARD Syndrome with PTPN11 gene mutation showing six cardinal symptoms of LEOPARD.
They focused on two genetic disorders - Noonan Syndrome, which occurs in 1 in 1,000-2,500 live births and causes short stature, facial, blood and cardiovascular abnormalities and the much less common LEOPARD Syndrome, which features short stature, as well as skin, facial, skeletal and cardiovascular abnormalities.
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).
7) Common characteristics of infants with LEOPARD syndrome are freckles on the head and neck, hypertelorism, deafness and growth restriction.
Gain-of-function raf1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathy.