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A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. Other clinical abnormalities observed include retinitis pigmentosa, colour blindness, midline cranial and intracranial defects, hypertension, obesity, cryptorchidism, osteopenia, mild neurosensory hearing loss, gynaecomastia, diabetes mellitus, cleft lip or palate, and mental retardation. Anosmia is caused by degeneration of the olfactory bulba. Both sexes affected; prevalent in males (3:1). Most cases autosomal dominant, but recessive and X-linked cases are known. Possibility of female carrier.
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