Treacher Collins Syndrome
If your child has been born with Treacher Collins syndrome, one or both of the parents most likely have or have a family member with the syndrome. If you consulted a geneticist before getting pregnant, having a child with the syndrome can still feel overwhelming. As parents, we want our children to experience childhood without the complications any birth defect may pose.
Working with our internationally recognized team of surgeons and interdisciplinary specialists means that your child will receive among the highest-quality, comprehensive care and treatment available. Each team member is dedicated to helping children with birth defects be as happy and healthy as possible, so that they, too, can experience the joys of childhood.
Causes of Treacher Collins Syndrome
If your child has been born with Treacher Collins syndrome and there is no family history of the syndrome, rest assured that no actions or activities of the mother during the pregnancy have caused this condition. It is possible for the parents to pass on two healthy genes and still have a new genetic mutation occur in the first trimester of pregnancy. Treacher Collins occurs in 1 out of 10,000 births.
It is natural to wonder if you will have another child with Treacher Collins. If one parent carries the gene, there is a 50 percent chance of having another child with Treacher Collins syndrome. If neither parent carries the gene, the chance of having another child with the syndrome is negligible.
It is also natural to wonder if your child will have children with Treacher Collins. As an autosomal dominant condition, Treacher Collins has a 50 percent chance of occurring in your child’s children.
Symptoms of Treacher Collins Syndrome
Your child may also experience hearing loss. Most children with Treacher Collins can experience a 40 percent hearing loss in each ear. Some children are candidates for inner ear surgery to build an eardrum, while others will be candidates for hearing-aid implants. It is important to treat hearing issues before the age of one to minimize speech development issues.
A small percentage of children have issues with their hands. The most common problem is small or absent thumbs.
Other characteristics of Treacher Collins include:
- Down-slanting eyes
- Underdevelopment of or absence of cheekbones
- Lower jaw is often small
- Underdeveloped or unusually formed ears
- Possible cleft palate
- Difficulty feeding
- Trouble gaining weight
Pediatric Specialty Center
New Haven, CT 06510