Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

LEOPARD syndrome


Other Names for this Disease
  • Cardiomyopathic lentiginosis
  • Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes
  • Multiple lentigines syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin);
(E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)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 genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss.[1]

There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Most cases are inherited from a parent in an autosomal dominant pattern. Less often, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.[2]
Last updated: 12/8/2011

References

  1. LEOPARD syndrome. National Organization for Rare Disorders Web site. 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/718/viewAbstract. Accessed 12/8/2011.
  2. Gelb BD, Tartaglia M. LEOPARD syndrome. GeneReviews. November 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=leopard. Accessed 12/8/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on LEOPARD syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on LEOPARD syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the two types of Factor XIII deficiency.
    Factor XIIIA deficiency
    Factor XIIIB deficiency
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss LEOPARD syndrome. Click on the link to view a sample search on this topic.