LEOPARD syndrome

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congenital disorder, genetic disorder, pigmentation disorder, syndrome

Facts (generated by robot; please edit if you find it inaccurate)

• The acronym for LEOPARD syndrome is derived from a number of features seen in this condition: multiple lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.
• org PTPN11 Gene Test for LEOPARD Syndrome Background: LEOPARD syndrome is an autosomal dominant disorder whose clinical features may overlap with those of Noonan syndrome (facial anomalies, distinct congenital heart defects, pectus deformity, hearing loss and growth retardation).
• The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities.
• Histologically, LEOPARD syndrome is characterized by large membrane-bound accumulations of melanin granules within the Langerhans' cells; giant melanosomes, seen with neurofibromatosis, are generally rare with MLS (13, 14).
• The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural).

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