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
- Syndrome is usually caused by specific PTPN11 mutations and less commonly by BRAF and RAF1 mutations
- Characteristics of syndrome include lentigines, ocular hypertelorism, cardiac conduction abnormalities, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness
- Many also develop hypertrophic cardiomyopathy
- 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
- 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
