La sindrome di George è una malattia genetica molto rara che si manifesta già dopo la nascita, ma che non necessariamente presenti tutte insieme.
I bambini che ne sono colpiti possono mostrare sviluppo incompleto del timo e delle ghiandole paratiroidi, malformazioni cardiache, fessurazione del palato e malformazioni della faringe, anomalie del viso, difficoltà di apprendimento e, nei bambini appena nati, bassi livelli di calcio nel sangue.
Di solito il difetto genetico può venire trasmesso da un genitore portatore con la modalità autosomica dominante: in sintesi, basta che il bambino erediti una copia alterata del gene coinvolto da uno dei genitori perchè la malattia si manifesti.
Non esiste una terapia risolutiva per questa patologia, però la qualità della vita dei malati può essere notevolmente migliorata attraverso una serie di cure precoci, mirate e pluridisciplinare.
Infatti, a seconda delle manifestazioni con cui si caratterizza la malattia, saranno necessari controlli periodici di tipo cardiologico, endocrinologico, e via dicendo e per esempio, nel caso di fessurazione del palato o delle anomalie della faringe si possono curare tranquillamente ed in modo definitivo grazie ad un intervento di chirurgia specifico.
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