LEOPARD Syndrome

Definition

LEOPARD syndrome is a hereditary disease characterized by Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation and Deafness.

Symptoms

  • Multiple lentigines
  • Cardiac anomalies
  • Hearing loss
  • Developmental delay

Reasons

PTPN11 gene mutation.

Diagnosis

Clinical criteria, genetic testing.

Treatment

Symptomatic treatment.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of cardiac complications, emergency services should be consulted.

This page is for general information purposes only.