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LEOPARD Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Nov 30 [updated 2010 Nov 16].

Excerpt

DISEASE CHARACTERISTICS:

LEOPARD syndrome (LS) is an acronym for the cardinal features lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with LS do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (HCM) (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth retardation resulting in short stature occurs in fewer than 50% of affected persons. Sensorineural hearing deficits, present in approximately 20%, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with LS.

DIAGNOSIS/TESTING:

The diagnosis of LS is made on clinical grounds by observation of key features. PTPN11, RAF1, and BRAF are the genes known to be associated with LS. Molecular genetic testing of the three genes identifies mutations in about 95% of affected individuals. At least one additional gene in which mutation is causative is likely to exist.

MANAGEMENT:

Treatment of manifestations: Treatment of cardiovascular anomalies and cryptorchidism is the same as in the general population. Treatment of hearing loss includes hearing aids, enrollment in an educational program for the hearing impaired, and consideration of cochlear implantation. Developmental disability is managed by early intervention programs and individualized education strategies. Surveillance: Periodic follow-up and often lifelong monitoring may be necessary for any abnormality, especially a cardiovascular abnormality. For hearing loss, twice-yearly examination by a physician familiar with hereditary hearing impairment and repeat audiometry to confirm the stability of the hearing loss are recommended.

GENETIC COUNSELING:

LS is inherited in an autosomal dominant manner. A proband with LS may have the disorder as the result of a new gene mutation; the proportion of cases caused by de novo mutations is unknown. Each child of an individual with LS has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in an affected family member is known.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
20301557
[PubMed]
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