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Treacher Collins Syndrome (TCS)
Saturday, 26 July 2003
Thursday, 14 July 2005
Mandibulofacial Dysostosis, Treacher Collins-Franceschetti Syndrome

What

Treacher Collins syndrome (TCS) is a rare genetic disorder that is characterized by craniofacial abnormalities, which are differences of the head and face. Children have certain facial features such as flat cheeks, and small or underdeveloped jaws, mouths, ears, and eyes.

Who

Treacher Collins syndrome occurs in all ethnicities and equally affects both males and females. TCS occurs in about 1 in 10,000 to 1 in 50,000 live births.

Signs and Symptoms

Treacher Collins syndrome is present from birth. Physical features vary greatly from being so mild that symptoms are not noticeable to very severe. Children affected with TCS often have certain facial features including under development of the bones of the face. The eyes slant downward. The lower eyelids may have notches in them or missing eyelashes. The cheeks are flat. The airway passages in the nose may be small or closed which can cause breathing problems. The ears may be small or missing and hearing loss is common. There can be hair that grows in front of the ear toward the cheek. The mouth and jaw may be small. The teeth may be crooked and crowded, and there can be eating problems. Less frequently, there may be an opening in the lip or roof of the mouth (cleft lip or cleft palate). Some children have heart problems. Intelligence is usually normal. It is thought that any delay in development is probably due to hearing loss. Fertility is normal.

Possible Causes

Treacher Collins syndrome is caused by a change (mutation) in a gene called TCOF1. This gene is located on chromosome 5. In about 60 % of cases, TCS is not inherited from a parent but is caused by a new (or sporadic) genetic mutation. The cause for this genetic change is not known, nor can it be predicted. It seems to be associated with fathers of older age. The affected gene is passed on in an autosomal dominant manner. Even when the gene is passed on, the severity of the symptoms can be extremely variable even within the same family.

Diagnosis

The diagnosis of Treacher Collins syndrome is based on the signs and symptoms described above. Genetic testing of the TCOF1 gene is available to confirm the diagnosis. In some cases of TCS, the cause is unknown.

Treatment

Children affected with Treacher Collins syndrome are usually followed in a craniofacial clinic. This is a specialty clinic that has a team of many members who specialize in disorders affecting the head and face. The team includes a craniofacial plastic and reconstructive surgeon, a neurosurgeon, an ENT (ear, nose, and throat) surgeon, a pediatrician, a geneticist, an ophthalmologist, a pediatric dentist, an orthodontist, an audiologist, a speech therapist, and a psychologist or social worker. The facial features of TCS can be distressing and craniofacial surgery is available to cosmetically and functionally repair the facial differences. The craniofacial surgeon may need a specialized x-ray called a CT scan of the head to see all of the bones of the skull, face, and ears. If the child is having trouble breathing, a tracheostomy (opening made in the neck into the windpipe) is vital to allow the child to breathe. Other respiratory equipment (ventilators, suction machines, oxygen) can also be provided if needed to assist with breathing. Audiologists can perform hearing tests. If the child has hearing loss, this can be treated with hearing aids. An ophthalmologist can examine the child’s eyes to see if there are any eye or vision problems. A dentist is important for any teeth problems and an orthodontist is often needed for braces. If the child has any speech problems, it is important to have speech therapy.

Prognosis

Children affected with Treacher Collins syndrome usually lead normal lives. The great majority have normal intelligence, hold jobs, and start their own families. The most problematic issues are caused by breathing problems, and if respiratory function can be successfully managed early in life, the child will have a normal lifespan.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Treacher Collins Foundation
Good overview including the genetics of TCS for parents, information in Spanish, and tips on feeding and nutrition.

Treacher Collins Connections 
A support group for families affected by TCS.

Reflections on Treacher Collins Syndrome
A website created by others affected by TCS sharing their personal experiences about living with the syndrome.

Google Search for Treacher Collins Syndrome (TCS)

References and Sources

McKusick, V. OMIM 154500: Treacher Collins Syndrome. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500 Gene Reviews: Treacher Collins Syndrome. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=UZ86NNJ6SOIUF&gry=&fcn=y&fw=PnQD&filename=/profiles/tcs/index.html