Noonan syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian

Differential Diagnosis

LEOPARD Syndrome

LEOPARD syndrome, also known as multiple lentigines syndrome, is a rare congenital condition characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym that summarizes the most important features of this disease which includes Lentigines, ECG findings (conduction abnormalities), Ocular problems (hypertelorism), Pulmonic stenosis, Abnormal genitalia, growth Retardation, and Deafness. Phenotypically and genotypically, LEOPARD syndrome closely resembles Noonan syndrome although around 200 cases have only been reported worldwide. The disorder also involves mutations in the PTPN11 gene responsible for the NSH-2 domain on SHP-2. Several common loci of missense mutations are shared between these 2 syndromes, and genetic analysis alone can sometimes be hard to differentiate the two. Clinically, LS is a combination of neurofibromatosis type 1 and Noonan syndrome. The lentigines are important to make the diagnosis, although some do not appear before 4 to 5 years of age. Other signs more prominent in LS compared to Noonan are the very high prevalence of hypertrophic cardiomyopathy and deafness.

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