Orofaziale Spaltbildungen

Zusammenfassung

Orofaziale Spaltbildungen zählen mit einer weltweiten Prävalenz von 1: 700 zu den häufigsten angeborenen Fehlbildungen beim Menschen. Nicht-syndromale Lippen-Kiefer-Gaumenspalten oder isolierte Gaumenspalten sind durch eine inkomplette Trennung von Nase und Mundhöhle ohne zusätzliche Fehlbildungen charakterisiert. Abgesehen von den durchgängigen GS gibt es auch die unter der intakten Schleimhaut verborgenen submukösen Gaumenspalten (SMGS), bei denen die Weichgaumenmuskulatur nicht fusioniert ist. Neben genetischen Faktoren wird auch eine Einwirkung von Umweltfaktoren bei diesen Malformationen diskutiert. Orofaziale Spaltbildungen führen zu einer Vielzahl von Komplikationen, wie z. B. Schluck-, Sprach-, Sprech- oder Hörproblemen und erfordern eine interdisziplinäre Therapie. Oft werden auch Humangenetiker konsultiert, um das Wiederholungsrisiko für diese Fehlbildung bei potenziellen Nachkommen abzuschätzen.

Abstract

Orofacial Clefts

Orofacial clefts are one of the most common birth defects in humans with a prevalence of 1:700. Nonsyndromic cleft lip with or without cleft palate or isolated cleft palate show an incomplete separation of the oral cavity and the nasal space without any additional malformations. Beside complete cleft palate also submucous celft palates exist that are hidden below the intact mucosa. The aetiology of celfts is a complex interaction between environmental and genetic factors. Orofacial clefts cause many complications like feeding, speech and hearing problems needing a team of head and neck surgeons, oral and maxillofacial surgeons, phoniatricians and speech therapist for treatment. Often a genetic counselling is made for estimating the risk for the relatives.

Schlüsselwörter

orofaziale Spalten - velopharyngeale Insuffizinez - Gene - Umweltfaktoren

Key words

orofacial clefts - velopharyngeal insufficiency - genes - environmental factors

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