LEOPARD syndrome

Dr Aditya Shetty and Radswiki et al.

LEOPARD syndrome (LS) is a rare autosomal dominant hereditary disorder. It is an acronym not the following set of features

Not all individuals will have the entire set.

Genetics 

Thought to result from a mutation in the PTPN11 (protein tyrosinephosphatase nonreceptor type 11 gene located on chromosome 12q24.1 2

Associations

One concerning potential complication is the development of hypertrophic cardiomyopathy (HCM) (often in infancy) related to congenital cardiac defects.

Originally described by R J Gorlin et.al in 1969 1

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Article Information

rID: 13885
Section: Syndromes
Synonyms or Alternate Spellings:
  • LEOPARD syndrome (LS)
  • Gorlin type II syndrome
  • Lentiginosis profusa syndrome

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