Treacher Collins syndrome is a rare inherited group of conditions that affects the growth of a child's skull and facial bones. It can cause facial differences and hearing loss. Treatment often includes reconstructive surgery. Without treatment, children with Treacher Collins syndrome can develop complications that require lifelong medical.. La diagnosi della sindrome di Treacher Collins si pone in base alla presenza di segni clinici maggiori, minori e radiologici. Il test genetico viene richiesto per i pazienti che presentano almeno 2 segni clinici maggiori o tre segni clinici minori della sindrome di Treacher Collins.. L'analisi molecolare del gene TCOF1 è indicata quando vi sia un singolo caso in famiglia o quando è.

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Treacher Collins syndrome

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Treacher Collins
Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no.. Sindrome di Treacher Collins Nome della Malattia: Sindrome di Treacher Collins ICD 10: Q 75.4 Sinonimi: Disostosi mandibolo-facciale, Sindrome di Franceschetti-Zwahlen-Klein La Sindrome di Treacher Collins (TCS) è un raro disordine dello sviluppo cranio-facciale, ha un'incidenza approssimativa di 1:50.000 nati vivi ed è dovuto a mutazioni.