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Treacher Collins syndrome
Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome
Treacher Collins syndrome is a condition that is passed down through families (hereditary). It leads to problems with the structure of the face.
Causes
Changes to 1 of 3 genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms
Symptoms may include:
- Outer part of the ears are abnormal or almost completely missing
- Hearing loss
-
Very small jaw (
micrognathia
)
Micrognathia
Micrognathia is a term for a lower jaw that is smaller than normal.
Read Article Now Book Mark Article - Very large mouth
-
Defect in the lower eyelid (
coloboma
)
Coloboma
Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).
Read Article Now Book Mark Article - Scalp hair that reaches to the cheeks
-
Cleft palate
Cleft palate
Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth.
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Exams and Tests
The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:
- Abnormal eye shape
- Flat cheekbones
- Clefts in the face
- Small jaw
-
Low-set ears
Low-set ears
Low-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).
Read Article Now Book Mark Article - Abnormally formed ears
- Abnormal ear canal
-
Hearing loss
Hearing loss
Hearing loss is being partly or totally unable to hear sound in one or both ears.
Read Article Now Book Mark Article - Defects in the eye (coloboma that extends into the lower lid)
- Decreased eyelashes on the lower eyelid
Genetic tests can help identify gene changes linked to this condition.
Treatment
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
Receding chin
Micrognathia is a term for a lower jaw that is smaller than normal.
Support Groups
FACES: The National Craniofacial Association: www.faces-cranio.org/Disord/Treacher.htm
Outlook (Prognosis)
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Possible Complications
Complications may include:
- Feeding difficulty
- Speaking difficulty
- Communication problems
-
Vision problems
Vision problems
There are many types of eye problems and vision disturbances, such as: HalosBlurred vision (the loss of sharpness of vision and the inability to see ...
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When to Contact a Medical Professional
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Prevention
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
References
Katsanis SH, Jabs EW. Treacher Collins syndrome. Gene Reviews. Seattle, WA: University of Washington; 2012:8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704 . Accessed August 1, 2015.
Tinanoff N. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 311.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
