[Treacher-Collins-syndrome (author's transl)].
The Treacher-Collins syndrome is characterised by an anti-mongoloid slant of the eyes, hypoplasia of the facial bones, in particular the the mandible, and malformations of the external and middle ear with hearing loss. Early diagnosis of hearing defects is of prime importance as nowadays suitable treatment can prevent the resulting delay in speech development and secondary intellectual retardation.
D000015:Abnormalities, Multiple; D001299:Audiometry; D002675:Child, Preschool; D003884:Dermoid Cyst / Q000175:diagnosis; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D004432:Ear, Middle / Q000002:abnormalities; D005134:Eye Neoplasms / Q000175:diagnosis; D006311:Hearing Disorders / Q000175:diagnosis; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D013577:Syndrome
Treacher-Collins-Syndrom. Franceschetti-Klein-Syndrom.