Treacher Collins Syndrome

Synonym

Mandibulofacial dysostosis

Codes

ICD-10: Q75.4
ORPHA: 86

Estimated occurrence

1:50,000 births

Etiology

Treacher Collins syndrome is caused by a mutation to a gene in the long arm of chromosome 5. Autosomal dominant heredity, but in around 60 per cent of the children who are born with Treacher Collins syndrome, the cause is a de novo mutation. The diagnosis is made based on the results of the clinical examination.

General symptoms

Treacher Collins’ facial deformities are two-sided. Cheekbones are often underdeveloped, and sometimes, the cheekbone arch is lacking completely on both sides. Eyelid coloboma (formation of a cleft eyelid) may occur. Ear deformities are very common and lead to varying degrees of hearing loss.

Orofacial/odontological symptoms

Around 30 per cent of people suffering from Treacher Collins have a cleft palate. In other cases, the palate is high and narrow. Difficulties sucking cause breastfeeding problems, and later, there are often problems with chewing and swallowing. Communication difficulties may arise, partly due to the shape of the mouth, throat and nasal cavity, partly due to hearing loss. The lower jaw is often small, which causes dental problems in the shape of overcrowding. Other malocclusions, such as open bite and lack of teeth, are not uncommon. If the facial skeleton is underdeveloped, this also leads to underdevelopment of the attached muscles, giving rise to reduced oral motor skills. Children with Treacher Collins syndrome may frequently stop breathing while sleeping (sleep apnoea). This does, however, get better with age, but may require special measures to be taken.

Orofacial/odontological treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • In cases of craniofacial deformities, a specialist team will be needed for follow up and treatment.
  • Snoring problems should be followed up by a physician.
  • Speech and language difficulties should be treated by a speech therapist.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
Updated: 2017-09-13 08:35