Familial Treacher–Collins syndrome

Familial Treacher–Collins syndrome is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The condition, which is present from birth, can also affect other parts of the body. Familial Treacher–Collins syndrome is a subtype of Treacher Collins syndrome, which is caused by mutations in the TCOF1, POLR1C, or POLR1D genes.

Symptoms

The symptoms of Familial Treacher–Collins syndrome can vary greatly in severity, from almost unnoticeable to severe. Common symptoms include microtia (abnormally small ears), coloboma (a notch in the lower eyelids), downward-slanting palpebral fissures (the opening between the upper and lower eyelids), and underdevelopment of the zygomatic bones (cheekbones) and mandible (lower jaw). Some people with the condition may also have a cleft palate and an unusually high-pitched voice.

Causes

Familial Treacher–Collins syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes provide instructions for making proteins that are involved in the early development of the facial bones and tissues. Mutations in these genes disrupt this development, leading to the characteristic features of the syndrome.

Diagnosis

Diagnosis of Familial Treacher–Collins syndrome is typically based on a clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Familial Treacher–Collins syndrome is symptomatic and supportive. This may include surgery to correct facial abnormalities, hearing aids for those with hearing loss, and speech therapy for those with speech difficulties.

Prognosis

The prognosis for individuals with Familial Treacher–Collins syndrome varies depending on the severity of symptoms. With appropriate management, most individuals with the condition lead normal lives.

See also

• Genetic disorder
• Mandibulofacial dysostosis
• Craniofacial surgery

NIH genetic and rare disease info

• NIH info on Familial Treacher–Collins syndrome

Familial Treacher–Collins syndrome is a rare disease.

Familial Treacher–Collins syndrome Resources
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