LEOPARD syndrome

LEOPARD syndrome

Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome, an acronym for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness)

4 Interesting Facts of LEOPARD syndrome

  1. Syndrome is usually caused by specific PTPN11 mutations and less commonly by BRAF and RAF1 mutations 
  2. Characteristics of syndrome include lentigines, ocular hypertelorism, cardiac conduction abnormalities, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness 
    • Many also develop hypertrophic cardiomyopathy
  3. Phenotypic manifestations may closely resemble those of Noonan syndrome; however, a characteristic of these patients is that lentigines begin to appear at approximately age 4 to 5 years and increase to thousands by puberty 
    • Patients with Noonan syndrome with multiple lentigines may be diagnosed with Noonan syndrome early in life until characteristic cutaneous manifestations evolve 
  4. Differentiate by clinical presentation and lack of pathogenic variant associated with Noonan syndrome
    • Mutation analysis identifying distinct pathogenic variants associated with Noonan syndrome with multiple lentigines may assist in definitive diagnosis 

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