TREACHER - COLLINS : symptoms, treatments

 TREACHER  COLLINS SYNDROME 

TREACHER COLLINS SYNDROME [ TCS ] is a genetic disorder characterized by deformities of the ears eyes , cheekbone and chin . the degree to which a person is affected , however , may vary from mild to severe. complication may include breathing problems , problem seeing , cleft palate and hearing loss . those affected generally have normal intelligence . 





TCS is usually autosomal dominant . Diagnosis is generally suspected based on symptoms and X rays and potentially confirmation by genetic testing . TSC is not curable . symptoms may be managed with reconstructive surgery , hearing aids , speech therapy , life expectancy is generally normal .  

SYMPTOMS OF TREACHER COLLINS SYNDRONE 

Symptoms in people with TCS vary . some individuals are so mildly affected that they remain undiagnosed , while other have moderate to severe facial treatment and life threatening airway compromise . 



The most common symptoms of TCS is underdevelopment of the lower  jaw and the zygomatic bone . this can be accompanied by the tongue being retracted . the small mandible can results 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. 

Less common features of TCS may add to an affected person's breathing problems , including sleep apnea . underdevelopment of the pharynx can also narrow the airway . the psychological and social problems associated with facial deformity can affect quality of life in individuals with TCS .

 

TREATMENT OF TREACHER COLLINS SYNDROME 



The  treatment of individuals with TCS may involve the intervention of professional from multiple disciplines . the primary concern are breathing and feeding as a consequences  of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue . Sometimes , they may require to maintain an adequate airway., and a gastrostomy to assure an adequate caloric intake protecting the airway . 

this may predict the postoperative situation and gives insight on the chance of the presence of sleep apnea [ OSAS ] after the operation . hearing loss is treated by bone conduction amplification , speech therapy , and educational intervention to avoid language / speech problems . external ear reconstruction is usually done when the individuals is at least 8 years old . sometimes , the external auditory canal or middle ear can also be treated . 

The contour of the facial soft tissues generally requires correction at a later age , of the facial skeletal maturity . the use of microsurgical methods ,like the free flap transfer , has improved  the correction of facial soft contours . another techniques to improves the facial soft tissues contour is lipofilling . for instance , lipofilling is used  to reconstruct the eyelids . 

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