Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: info@audiology.org
    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: inquire@heart.org
    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: chaser@compuserve.com
    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: hgf1@hgfound.org
    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: mary@magicfoundation.org
    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: mums@netnet.net
    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: getinfo@madisonsfoundation.org
    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: nhlbiinfo@rover.nhlbi.nih.gov
    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