Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face.
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.
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
Genetic tests can help identify gene changes linked to this condition.
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.
Treacher Collins Foundation -- www.treachercollinsfnd.org
Children with this syndrome typically grow to become normally functioning adults of normal intelligence.
This condition is usually seen at birth.
Genetic counseling can help families understand the condition and how to care for the patient.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Mandibulofacial dysostosis
Updated by: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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