Treacher Collins Syndrome is a cluster of genetic disorders that affect the structure, size, and positioning of the jaws, eyes, ears, and cheekbones. Treacher Collins Syndrome can affect a child’s eating, breathing, or hearing ability.
The disorder is rare, ranges from mild to severe, and is treated with corrective surgeries and lifelong medical care.
Common symptoms of Treacher Collins Syndrome include:
The symptoms that someone with Treacher Collins Syndrome exhibits vary from person to person. They are present at birth and usually affect both sides of the face. Treacher Collins Syndrome affects speech, language, hearing, and breathing abilities the most and rarely affects cognitive abilities.
The only known cause of Treacher Collins Syndrome is genetic mutations. 60% of genetic mutations linked to Treacher Collins Syndrome are not inherited. However, mutations linked to Treacher Collins Syndrome can be inherited from a parent. The four genetic mutations linked to Treacher Collins Syndrome occur on the TCOF1, POLR1B, POLR1C, and POLR1D genes.
The mutations can be inherited in an autosomal dominant (only one parent needs a mutation) or autosomal recessive (both parents need a mutation) pattern. Autosomal dominant mutations occur on POLR1B, POLR1D, and TCOF1, and autosomal recessive mutations occur on TCOF1, rarely, and POLR1D.
The only risk factor for Treacher Collins Syndrome is having a family member with the disorder. If there is a family history of Treacher Collins Syndrome, you may want to consider genetic testing when trying to conceive.
Diagnosis is usually made while your child is a newborn. A detailed medical history and physical exam findings may lead a doctor to believe your child has Treacher Collins Syndrome. X-ray testing to visualise skull and facial abnormalities and genetic testing will be done to make a definitive diagnosis.
Complications associated with Treacher Collins Syndrome include severe respiratory illness, heart disease, and malnutrition.
Treatment for Treacher Collins Syndrome depends on your child’s symptoms. Here are some common treatments for different aspects of the disorder.
Children with Treacher Collins Syndrome cannot be cured and will need lifelong medical support from specialists. However, they typically have an average life expectancy. There is no way to prevent Treacher Collins Syndrome in a child. Genetic testing can be done in early pregnancy to see if your child has the disorder. Many children and families caring for children with Treacher Collins Syndrome benefit from going to local support groups.