Treacher Collins Syndrome
Treacher Collins Syndrome Causes
There is one known cause of Treacher Collins and that is a mutation in the TCOF1 gene, at chromosome 5-q32-q33.1. Called treacle, this protein coded gene has been hypothesized to assist in protein sorting during particular stages in embryonic development. The syndrome is also inherited in an autosomal-dominant pattern.
Treacher Collins Syndrome Definition
Also known as Franceschetti-Zwahlen-Kleain syndrome or mandibulo facial dysostosis, Treacher Collins syndrome is a rare genetic disorder characterized by craniofacial deformities. Found in 10,000 births, the disease's typical features include downward slanting eyes, a small lower jaw, and malformed or absent ears.
Treacher Collins Syndrome Diagnosis
Examinations would reveal a variety of problems including abnormal eye shape, flat cheekbones, facial clefts, small jaw, low-set ears, malformed ears and abnormal ear canal.
Treacher Collins Syndrome Symptoms and Signs
The disease has various symptoms ranging from almost unnoticeable to severe. Most however have underdeveloped facial bones resulting in a sunken appearance in the middle of the face. The affected individual also have a prominent nose, and a very small jaw. There are also cases where people with the disease are born with an opening in the roof of the mouth, which is called a cleft palate. Severe cases see patients with underdeveloped facial bones, which cause the restriction in the infant's airway causing potentially life-threatening respiratory problems.
Treacher Collins Syndrome Treatment
To improve appearance, people with the syndrome can undergo surgeries and get hearing aids. Those with cleft palate may also undergo surgery.