Treacher Collins syndrome
| Treacher-Collins Syndrome | |
|---|---|
| Other names | Treacher Collins–Franceschetti syndrome, mandibulofacial dysostosis, Franceschetti-Zwalen-Klein syndrome |
| Child with Treacher Collins syndrome | |
| Specialty | Medical genetics |
| Symptoms | Deformities of the ears, eyes, cheekbones |
| Complications | Breathing problems, problems seeing, hearing loss |
| Causes | Genetic |
| Diagnostic method | Based on symptoms, X-rays, genetic testing |
| Differential diagnosis | Nager syndrome, Miller syndrome, hemifacial microsomia |
| Treatment | Reconstructive surgery, hearing aids, speech therapy |
| Prognosis | Generally normal life expectancy |
| Frequency | 1 in 50,000 people |
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.
TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited. The involved genes may include TCOF1, POLR1C, or POLR1D. Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing.
Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.