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Treacher Collins' Syndrome

Synonyms: Mandibulofacial craniosynostosis; mandibulofacial dysostosis,Berry-Treacher Collins syndrome, Franceschetti-Zwahlen-Klein syndrome, Thomson complex

  • Treacher Collins' syndrome is a disorder of craniofacial development:1
  • Intelligence is usually normal
  • It is an autosomal dominant disorder with variable expression. The critical region is at chromosome 5q31.3-32.2
  • More than half of all cases are thought to be new mutations because there is no family history of the disease.
  • There is a great deal of clinical and genetic variation.3
Epidemiology

Incidence is approximately 1 in 50,000 live births.2

Presentation
  • The main features are antimongoloid palpebral fissures, coloboma of lower eyelids, eyelash malformations, molar defects, preauricular hair displacement, flat cheekbones (hypoplastic zygomatic arches), micrognathia and "fish-like" facial appearance.
  • The common features are macrostomia, low-set ears and ear defects, high-arched palate, nasal deformity, teeth malocclusion, open bite and conductive hearing loss.
  • Other abnormalities, e.g. cleft palate, colobomas of the upper lid, hypertelorism and mental retardation, are infrequent.
  • In severely affected patients, the airway is compromised by the mandibular deficiency, glossoptosis and choanal atresia. Sleep apnoea and sudden infant death syndrome may occur.
Differential diagnosis
  • Similar syndromes include oculoauriculovertebral dysplasia and Goldenhar syndrome.
  • However the only syndrome that Treacher Collins' syndrome resembles in its facial aspects is Nager's acrofacial dysostosis.2
Investigations
  • Diagnosis is essentially made on clinical features. A thorough assessment must be made for all associated features, especially those affecting breathing, and complications, e.g. conductive hearing loss.
  • Chorionic villus sample for DNA analysis if there is a family history.
  • Otherwise diagnosis is at antenatal ultrasound in mid-trimester.4
Management
  • The spectrum and degree of deformities are extensive and therefore the nature and intensity of management is also very variable.
  • In severe cases the airway must be evaluated and secured from birth. Either positioning alone or tracheostomy is required to manage the airway, and a gastrostomy required for feeding.
  • Operative correction of cleft palate.
  • Operations of choanal atresia or mandibular lengthening are performed at the age of 2 to 3 years or later.
  • The timing of bone and soft tissue reconstruction will vary but bone reconstruction should usually precede soft tissue corrections.
  • Autogenous tissues, e.g. ribs or iliac bone, should be used and synthetic materials avoided.
  • Soft tissue reconstruction includes correction of lower eyelid coloboma and ear reconstruction.
  • Hearing and speech: hearing aids, speech therapy.
  • Affected children and their families may need a great deal of support.
Complications
  • Feeding difficulty
  • Hearing loss
  • Speech delay
  • Hearing and speech difficulties may lead to educational difficulties.
  • Self-awareness and bullying resulting from the affect on appearance may lead to psychological difficulties.
Prognosis
  • Become normally functioning adults with normal intelligence
  • Careful attention to any hearing problem is essential in order for the child to realise their full potential.
Prevention
  • Genetic counselling for prospective parents with a family history of Treacher Collins' syndrome.

Document references
  1. Tolarova MM; Mandibulofacial Dysostosis (Treacher Collins Syndrome). eMedicine, March 2007.
  2. Marszalek B, Wojcicki P, Kobus K, et al; Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33. [abstract]
  3. Edery P, Manach Y, Le Merrer M, et al; Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am J Med Genet. 1994 Aug 15;52(2):174-7. [abstract]
  4. Crane JP, Beaver HA; Midtrimester sonographic diagnosis of mandibulofacial dysostosis. Am J Med Genet. 1986 Oct;25(2):251-5. [abstract]
Internet and further reading Acknowledgements EMIS is grateful to Dr Colin Tidy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.
DocID: 1280
Document Version: 21
DocRef: bgp1439
Last Updated: 29 Jun 2008
Review Date: 29 Jun 2010
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