Sindrome di McKusick-Kaufman
Sindrome di McKusick-Kaufman OMIM 236700
La sindrome di McKusick-Kaufman è caratterizzata nelle femmine da idrometrocolpo e polidattilia postassiale; meno
frequenti le cardiopatie congenite. L'idrometrocolpo, conseguente a imene imperforato o atresia della vagina, è dovuto ad
accumulo di secrezioni in vagina e in utero con formazione di una massa mediana, fissa che può anche provocare
idronefrosi.
Nei maschi la sindrome si manifesta con ipospadia, rafe scrotale prominente e polidattilia postassiale; possono associarsi
occasionalmente atresia esofagea con fistola tracheo-esofagea distale, difetti vertebrali e idrope fetale.
La trasmissione è autosomica recessiva legata a mutazioni del gene MKKS sul cromosoma 20p12. Le mutazioni del gene
anomalie renali, polidattilia, retinite pigmentosa, ipogenitalismo.
La diagnosi prenatale della sindrome di McKusick-Kaufman è possibile, nelle femmine attraverso il riscontro ecografico
di massa addominale e polidattilia, nei maschi di ipospadia e polidattilia.
Bibliografia
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