Franceschetti-Zwahlen-Klein syndrome
| Treacher Collins syndrome | |
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| Synonyms | Treacher Collins–Franceschetti syndrome, mandibulofacial dysostosis, Franceschetti-Zwalen-Klein syndrome |
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| Child with Treacher Collins syndrome | |
| Specialty | Medical genetics |
| Symptoms | Deformities of the ears, eyes, cheekbones, chin |
| 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 |
| Classification |
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| External resources |
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 a 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 from a person's parents. The involved gene 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.
Symptoms in people with Treacher Collins syndrome vary. Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway compromise. Most of the features of TCS are symmetrical and are already recognizable at birth.
The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone. This can be accompanied by the tongue being retracted. The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.
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