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03-21-2013, 06:34 AM
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 My Rank: FIRST SERGEANT Poster Rank:417 Male Join Date: Dec 2012 Posts: 2,771
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Treacher Collins Syndrome
A.D.A.M. Medical Encyclopedia. Treacher-Collins syndrome Mandibulofacial dysostosis Last reviewed: August 4, 2011. Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face. Causes, incidence, and risk factors Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). This condition may vary in severity from generation to generation and from person to person. Symptoms Outer part of the ears are abnormal or almost completely missing Hearing loss Very small jaw (micrognathia) Very large mouth Defect in the lower eyelid (coloboma) Scalp hair that reaches to the cheeks Cleft palate Signs and tests The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Clefts in the face Small jaw Low-set ears Abnormally formed ears Abnormal ear canal Hearing loss Defects in the eye (coloboma that extends into the lower lid) Decreased eyelashes on the lower eyelid Genetic tests can help identify gene changes linked to this condition. Treatment Hearing loss is treated to ensure better performance in school. A good plastic surgeon is very important, because children with this condition sometimes need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure. Support Groups Treacher Collins Foundation -- www.treachercollinsfnd.org Expectations (prognosis) Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Complications Feeding difficulty Speaking difficulty Communication problems Vision problems |
