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Tricher Collins's syndrome


Tricher Collins's syndrome (English Treacher Collins syndrome, maxillofacial dysostosis) — the autosomal and dominant disease which is characterized by craniofacial deformation. It is described by the English ophthalmologist Edward Tricher Collins in 1900.

Symptoms of the Syndrome of Tricher Collins:

Tricher Collins's syndrome occurs at 1 of 50000 babies. Typical clinical signs: squint, colobomas a century, the size of a mouth, chin and ears is significantly less than norm. In certain cases — hearing easing.
There are various degrees of this disease — from almost imperceptible signs to extremely severe forms. At most of patients underdeveloped facial bones that leads to the "sunk" face, a large nose and very small jaws and a chin (micrognatia). Some patients have a wolf mouth. In hard cases, the micrognatia can force out language of injured newborns enough to cause a barrier of a stomatopharynx and potentially life-threatening respiratory diseases. It is necessary that the epiglottis was removed in the surgical way to help with obstruction respiratory tracts. Inborn heart disease is unusual feature.

Внешний вид больного с синдромом Тричера Коллинза

Outward of the patient with a syndrome Tricher Collins

Reasons of the Syndrome of Tricher Collins:

Most often, the nonsense mutation (emergence of a stop codon) in TCOF1 gene, leading to a gaplonedostatochnost is a cause of illness. The syndrome is inherited on an autosomal dominatnomu to the principle and characterized by high penetrance. Expressivity can be various.

Treatment of the Syndrome of Tricher Collins:

There is no etiotropic treatment.

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