Treacher Collins Syndrome

Treacher Collins syndrome is a genetic disorder of chromosome 5 that causes birth defects of the head and face. Mutations in the TCOF1 gene cause the syndrome. In about 40% of cases, Treacher Collins syndrome is inherited in an autosomal dominant pattern. In about 60% of cases, the child with Treacher Collins syndrome is the first in his or her family to have the disorder, due to a new mutation of the TCOF1 gene. Treacher Collins syndrome affects about 1 in 50,000 individuals. Both males and females are affected.

Symptoms

The specific physical symptoms of Treacher Collins syndrome may vary greatly from one individual to another, and may range from hardly noticeable to severe. Symptoms may include:

• underdeveloped or absent cheekbones
• very small, slanting lower jaw (micrognathia)
• notched lower eyelids (coloboma)
• eyes that slant downward (palpebral fissures)
• underdeveloped or malformed ears
• gap in the roof of the mouth (cleft palate)
• hearing loss due to abnormal formation of the inner ear
• breathing and/or eating problems due to the mouth and jaw defects

Diagnosis

Diagnosis of Treacher Collins syndrome is based on the physical symptoms present. A geneticist can determine whether or not the syndrome was inherited.

Treatment

Treatment of Treacher Collins syndrome is focused on management or correction of the face and head malformations. Treatment may include:

• repair of the cheekbones
• repair of cleft palate
• surgical correction of the underdeveloped jaw
• reconstruction of the ears
• conductive hearing aids
• speech therapy for both speaking and eating difficulties

Children with Treacher Collins syndrome are usually treated by doctors and therapists who specialize in head and neck disorders (craniofacial specialists). These teams of specialists often work in a special craniofacial center or clinic. The National Craniofacial Association has contact information for craniofacial medical teams, and also provides financial support for non-medical expenses of individuals traveling to a center for treatment.

_Sources:

"Treacher Collins Syndrome." List of Disorders. 22 Mar 2007. The National Craniofacial Association. 9 Apr 2008

"Treacher Collins Syndrome." Index of Rare Diseases. National Organization for Rare Disorders. 9 Apr 2008

"Treacher-Collins Syndrome." Rare Diseases. OrphaNet. 9 Apr 2008

"Treacher Collins Syndrome." Genetic Conditions. Dec 2006. Genetics Home Reference. 9 Apr 2008