LEOPARD Syndrome / Disease

Diseases & Conditions

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LEOPARD Syndrome

Synonyms of LEOPARD Syndrome

No synonyms found

Disorder Subdivisions

No synonyms found

General Discussion
LEOPARD syndrome is an rare genetic disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and facial (craniofacial) area, and/or the genitals. In individuals with the disorder, the range and severity of symptoms and physical characteristics may vary from case to case.
LEOPARD is an acronym for the characteristic abnormalities associated with the disorder: L stands for (L)entigines (multiple black or dark brown spots on the skin); (E)lectrocardiographic conduction defects (abnormalities of the electrical activity and the coordination of proper contractions of the heart); (0)cular hypertelorism (widely-spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitals; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss due to malfunction of the inner ear (sensorineural deafness). Some individuals with LEOPARD syndrome may also exhibit mild mental retardation, speech difficulties, and/or, in some cases, additional physical abnormalities. LEOPARD syndrome an autosomal dominant genetic disorder.

Organizations related to LEOPARD Syndrome

American Academy of Audiology
11730 Plaza America
Reston VA 20190
Phone #: 703-790-8466
800 #: 800-222-2336
e-mail: [email protected]
Home page: http://www.audiology.org
American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: [email protected]
Home page: http://www.americanheart.org
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: [email protected]
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: [email protected]
Home page: http://www.hgfound.org/
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: [email protected]
Home page: http://www.magicfoundation.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: [email protected]
Home page: N/A
Restricted Growth Association
P.O. Box 4744
Dorset Intl DT2 9FA
Phone #: 013-08 -898445
800 #: --
e-mail: N/A
Home page: http://www.restrictedgrowth.co.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html