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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.

Clinical features

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  • Strabismus
  • Cafe-au-lait spot
  • Sense of smell impaired
  • Short stature
  • Short neck
  • Aplasia of the ovary
  • Epicanthus
  • Missing ribs
  • Hypoplasia of the ovary
  • Triangular face
  • Delayed puberty
  • Depressed nasal ridge
  • Limited elbow movement
  • Posteriorly rotated ears
  • Parietal bossing
  • Third degree atrioventricular block
  • Cleft palate
  • Cryptorchidism
  • Hypospadias
  • Micropenis
  • Unilateral renal agenesis
  • Mandibular prognathia
  • Hypertelorism
  • Low-set ears
  • Sensorineural hearing impairment
  • Protruding ear
  • Webbed neck
  • Ptosis
  • Pectus excavatum
  • Pectus carinatum
  • Hypermelanotic macule
  • Intellectual disability, mild
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Subaortic stenosis
  • Kyphoscoliosis
  • Cubitus valgus
  • Spina bifida occulta
  • Scapular winging
  • Bundle branch block
  • Delayed menarche
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