LEOPARD syndrome

The LEOPARD syndrome called congenital malformations of heart, and skin and is therefore also called " kardiokutanes syndrome ". It is a variant of Noonan syndrome, constitute the salient cardiac phenotype in pulmonary stenosis and hypertrophic cardiomyopathy. Half of the LEOPARD and Noonan syndrome are sporadic, autosomal dominant half ago. The responsible gene is located on chromosome 12q22 and encodes the synthesis of protein - tyrosine phosphatase, nonreceptor type 11 ( PTPN11 ).

LEOPARD as an acronym stands for:

  • Lentiginosis
  • ECG changes: bundle branch block
  • Ocular: hypertelorism
  • Pulmonary stenosis and subvalvular aortic stenosis
  • Anomalies of genital organs: hypospadias, cryptorchidism, gonadal suppression
  • Growth retardation: Skeletal abnormalities such as pectus excavatum, winging scapula, joint hypermobility
  • Deafness ( deafness English ) sensorineural

The lentigines have (as in the Peutz -Jeghers syndrome) indicates a systemic disease. They arise by the hundreds in childhood on the entire body surface, pale with age in the face, but not in the oral cavity.

The treatment of the syndrome is symptomatic.

Clinical aspect

28 -year-old woman with many lentigines and cafe -au -lait spots

Leg of a 37 -year-old with LEOPARD Syndrome

5 - year-old child with LEOPARD syndrome, cafe -au -lait spots and dysmorphic signs: hypertelorism, ptosis, blue sclerae, low approach of dysmorphic ears

Congenital disorder Human gonad Winged scapula Peutz–Jeghers syndrome Dysmorphic feature
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