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An extremely rare and frequently lethal disease in infants characterized by cardiac and urogenital anomalies.

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Genital Anomaly-Cardiomyopathy Syndrome; Najjar Syndrome.

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Fewer than 10 patients have been described. Autosomal recessive inheritance has been suggested (although to date this disorder has been described only in boys). Parental consanguinity seems to be a significant risk factor.

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Urogenital features, which include hypospadias/epispadias, micropenis, testicular atrophy, and a bifid hypoplastic scrotum, are most likely caused by a primary testicular failure. Cardiomyopathy is frequent (myofiber disarray), and cardiac dysfunction may be rapidly progressive and severe in early infancy. Death usually results from cardiac failure. Additional features include anodontia, protruding lips, decreased sweating, decreased body hair, and mental retardation.

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Anesthesia care has not been reported in this syndrome. Cardiac function should be assessed by echocardiography. A 12-lead electrocardiogram may show cardiac conduction defects. Serum electrolytes should be checked and disturbances corrected. Cardiac dysfunction should set a low threshold for invasive monitoring, and inotropic support may be required. Arrhythmias may occur. Decreased sweating may lead to abnormal thermoregulation. Mental retardation may result in increased anxiety and limited cooperation. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Najjar SS, Der Kaloustian VM, Ardati KO: Genital anomaly and cardiomyopathy: A new syndrome. Clin Genet 26:371, 1984.  [PubMed: 6499250]
Najjar SS, Der Kaloustian VM, Nassif SI: Genital anomaly, mental retardation, and cardiomyopathy: A new syndrome? J Pediatr 83:286, 1973.  [PubMed: 4717589]
Thomas IT, Jewett T, Lantz P, et al: Najjar syndrome revisited. Am J Med Genet 47:1151, 1993.  [PubMed: 8291546]

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