Treacher Collins Syndrome

Treacher Collins Syndrome

Overview

Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear. Another name for Treacher Collins syndrome is mandibulofacial dysostosis.

Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins syndrome have surgery to correct facial differences like cleft palate. Some may need treatment for hearing loss, as well.

With treatment and routine healthcare follow-ups, children with Treacher Collins syndrome can live long, healthy lives. Early intervention is key, though. Without treatment, children with Treacher Collins syndrome may develop complications that require lifelong medical care.

Treacher Collins syndrome affects approximately 1 in every 50,000 children worldwide.

Symptoms

Children with Treacher Collins syndrome have distinctive facial characteristics, like:

Eyelids with a downward slant.

Small, flattened cheekbones.

Small lower jaw.

Small or differently shaped ears.

Notched eyelids.

Causes

Researchers link Treacher Collins syndrome to genetic variation. About half of all children who have the syndrome have a biological family member with the condition. But it also happens sporadically, with no apparent cause.

Complications

Children with Treacher Collins syndrome may have:

Hearing loss due to narrow or missing ear canals.

Breathing difficulties due to underdeveloped facial structures.

Cleft palate, which can lead to feeding issues in babies and speech challenges in young children.

Diagnosis

Healthcare providers might make a preliminary diagnosis based on regular newborn examinations. If your child’s symptoms point to Treacher Collins syndrome, your provider may refer you to a genetics specialist for further testing and diagnosis.

Treatment

Treacher Collins syndrome treatment depends on your child’s specific situation and medical needs. Not all children born with the condition require the same care.

From infancy through childhood, the goal of treatment is to improve health and function. Early in life, your child may need surgeries to help them breathe better. Sometimes, this may include a tracheostomy. In addition, many children will need some type of reconstructive surgery. Once they’ve finished growing (usually in their late teens or early adulthood), some people may choose to explore cosmetic surgery options, as well.

Reconstructive surgery

Healthcare providers use reconstructive surgery to treat structural abnormalities, ease symptoms and improve your child’s health. Depending on your child’s situation, they may need surgery on their:

Jaws. Surgery to align your child’s jaws and correct their bite can help with eating and breathing difficulties.

Mouth. Some children need cleft palate surgery. Others may need tooth extractions or orthodontics to reduce crowding.

Nose. If excess tissue inside your child’s nasal passages interferes with breathing, surgery can help open their airways.

Ears. Depending on a child’s specific symptoms, they might need ear tubes, hearing aids or surgery to rebuild their external ears. Hearing aids may also help.

Eyes. Some children may need surgery to correct a notch in their lower eyelids (eyelid coloboma).

Cheekbones. If small cheekbones cause feeding or breathing issues, surgery to reshape the area can help.

Type of Doctor Department :A  craniofacial surgeon or a specialized craniofacial team