Sídrome de Bardet-Biedl

Este síndrome, que se hereda de manera autosómica por un gen recesivo incompleto, se caracteriza por: degeneración retiniana, retraso mental, obesidad, hipogenitalismo y polidactilia, se acompaña de nefropatía.

Con frecuencia no aparecen todas las caracteristicas del síndrome en un mismo indivisuo, sino en los distintos miembros de la familia. Es más frecuente en los varones que en las hembras.

La degeneración de la retina es del tipo llamado «degeneración de conos y bastones» (RP atípica). A menudo, las alteraciones observadas en el fondo de ojo son mínimas, a pesar de la disminución de las funciones visuales y las anomalías del ERG, muy marcadas.

La capacidad mental puede oscilar entre la normalidad y un retraso mental acusado. El hipogenitalismo es más frecuente en los varones. La polidactilia se presenta, por lo regular, con 6 dedos (manos o pies). Otras anomalías digitales incluyen sindactilia y braquidactilia.

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