Tricher Collins's syndrome
- Symptoms of the Syndrome of Tricher Collins
- Reasons of the Syndrome of Tricher Collins
- Treatment of the Syndrome of Tricher Collins
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.
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.