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Bardet-Biedl Syndrome - An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) |
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Familial Mediterranean Fever - An autosomal recessive inherited disease characterized by episodic fever, severe abdominal pain, pleurisy, arthritis, and a characteristic ankle rash. Disease flare-ups tend to last 3 days, and individuals are asymptomatic between attacks. Orchitis, a benign recurrent MENINGITIS, headaches, and amyloid nephropathy may also occur. (From Medicine (Baltimore) 1998 Jul;77(4):268-97) |
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Laurence-Moon Syndrome - An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9) |
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Pituitary Diseases - Disorders of the anterior or posterior pituitary gland which usually manifest as hypersecretion or hyposecretion of pituitary hormones. Pituitary mass lesions may also produce compression of the OPTIC CHIASM and other adjacent structures. |
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