La sindrome di Williams-Beuren è una malattia genetica rara che colpisce un bambino su ventimila e si caratterizza principalmente per una stenosi aortica sopravalvolare, un forte ritardo mentale che spesso viene associato ad un carattere molto estroverso e molto socievole, ritardo marcato della crescita, invecchiamento precoce e tratti del viso molto grossolani, caratterizzati principalmente da un naso depresso, labbra molto grandi, guance paffute con la mandibola poco sviluppata.
Oltre a ciò, vi sono notevoli problemi di sordità e di cecità, e difficoltà di apprendimento a causa di una forte compromissione dell’emisfero destro.
La sindrome di Williams è causata da una microdelezione sul cromosoma 7, ossia a causa della cancellazione di alcuni geni adiacenti (circa 13), presenti in una particolare regione del cromosoma, denominata q11.23.
Questo gene è in grado di trasformare l’elastina, che è una importante componente dei tessuti connettivi, in particolare delle arterie; nel caso in cui vi sia un grave deficit di questa sostanza, come in questo caso, si manifestano malformazioni vascolari e connettivali.
Nonostante i tratti del viso siano una caratteristica distintiva della sindrome di Williams, come abbiamo detto prima, questi però si manifestano dopo i 18 o 24 mesi di vita ed in seguito questi tratti si accentuano con l’età e questo è uno dei motivi per i quali la diagnosi può essere tardiva.
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