GTR Home > Conditions/Phenotypes > LEOPARD syndrome 2

Disease characteristics

Excerpted from the GeneReview: LEOPARD Syndrome
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.

Associated genes

Clinical features

  • Cafe-au-lait spot
  • Short stature
  • Short neck
  • Curly hair
  • Epicanthus
  • Dolichocephaly
  • Downslanted palpebral fissures
  • Dry skin
  • Thick lower lip vermilion
  • Mandibular prognathia
  • Hypertelorism
  • Low-set ears
  • Webbed neck
  • Abnormality of the sternum
  • Multiple lentigines
  • Hypertrophic cardiomyopathy
  • Cubitus valgus
  • Depressed nasal bridge
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