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Treacher-Collins syndrome

Treacher-Collins syndrome

Schlüsselwörter Treacher-Collins syndrome; ICD 10: Q75.4; Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome
Keywords Treacher-Collins syndrome; ICD 10: Q75.4; Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome
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Treacher Collins (TCS) syndrome is a rare disorder of craniofacial development with an incidence of approximately 1:50,000 live births resulting from mutations in the TCOF1 gene [1].

Although Thomson [2] and Berry [3] were probably the first to describe the signs now associated with this syndrome, it was Dr Edward Treacher Collins, an English surgeon and ophthalmologist, who first characterised the condition in 1900 [4,5]. It exhibits autosomal dominant inheritance with variable penetrance. About 60 % of the cases arise from fresh mutations in TCOF 1 gene with no previous family history [1]. It is a disorder of neural crest cell proliferation, involving the first and second branchial arches. It is thus bilateral, symmetrical and restricted to the head and neck region of the body. Clinical features and severity are variable. Features relevant to anaesthesia and intubation include bony hypoplasia involving maxillary, zygomatic, and mandibular bones, small oral aperture, high arched palate and severe temporomandibular joint abnormalities. Other findings include predominant hypoplasia of soft tissues observed in the malar bone, inferior orbital rim and cheek, antimongoloid obliquity of the palpebral fissures, a coloboma of the outer third of the lower eyelids with absence of eyelashes, external ear abnormalities including anotia with atresia of the external auditory canal, and anomalies of the ossicular chain. Facial retrognathia or micrognathia is also commonly associated. Cleft palate is present in up to 35 % of patients and an additional 30–40 % have congenital palatopharyngeal incompetence. Chronic respiratory deficiency, obstructive sleep apnoea (OSA) and sudden death are other features. Uncommon findings are spinal or cardiac anomalies. People with TCS usually have normal intelligence. Anaes-thesia in patients presenting for surgery is a challenge in view of difficult mask ventilation and difficult intubation by conventional means [6,7]. This was first described by Ross way back in 1963 [8].