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Diseases

Genetic and Rare Diseases Information Center (GARD)

LEOPARD syndrome


Other Names for this Disease
  • Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes
  • Multiple lentigines syndrome
  • Cardiomyopathic lentiginosis
  • Noonan syndrome with multiple lentigines
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 features of the syndrome:
(L)entigines - 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 (slowed) growth resulting in short stature
(D)eafness[1]

There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. 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. Other cases are caused by mutations in the MAP2K1  gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition.[2]

Leopard syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development.[3][4]
Last updated: 6/28/2016

References

  1. LEOPARD syndrome. National Organization for Rare Disorders Web site. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/718/viewAbstract.
  2. Gelb BD & Tartaglia M. LEOPARD syndrome. GeneReviews. 2015; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=leopard.
  3. The “Classic” RASopathy Syndromes. RASopathiesNet. https://rasopathiesnet.org/rasopathies/syndromes/.
  4. Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013; 14:355-369. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • !LINK! is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.
Other Names for this Disease
  • Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes
  • Multiple lentigines syndrome
  • Cardiomyopathic lentiginosis
  • Noonan syndrome with multiple lentigines
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.