Treacher Collins syndrome

Treacher Collins Syndrome Care in Grand Rapids, Michigan

Treacher Collins syndrome is a rare genetic condition that affects the growth and development of the bones and soft tissues of the face. It can change how the skull, cheekbones, jaw, ears, and eyes form, often leading to facial differences and hearing loss.

Families in Grand Rapids, MI can access specialized care for Treacher Collins syndrome through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, University of Michigan Health-West (Metro Health), and Mercy Health. Many children are also referred to regional craniofacial centers in Michigan for coordinated, long-term care.

How Common Is Treacher Collins Syndrome?

Treacher Collins syndrome affects about 1 in every 50,000 births worldwide. It affects children of all races and genders equally, including families here in West Michigan and the greater Grand Rapids area.

The condition can range from very mild (with subtle facial changes) to severe (with significant breathing, feeding, and hearing problems). In most cases, intelligence is normal.

Symptoms and Signs of Treacher Collins Syndrome

The signs of Treacher Collins syndrome can vary widely, even within the same family. Some children in Grand Rapids may have only mild features, while others may need intensive medical and surgical care.

Common Facial and Physical Features

Symptoms may include:

Small jawbone (micrognathia)
Cleft palate (opening in the roof of the mouth)
Disproportionately large mouth (macrostomia)
Small or absent cheekbones
Large, pointed nose
Droopy or misshapen eyes with:
- Notched lower eyelids
- Missing lower eyelashes
- Incomplete or absent floor of the eye sockets
Overgrowth of scalp hair onto the cheeks
Low-set, misshapen, small, or absent ears
Deformities of the ear canal

Hearing and Vision

Conductive hearing loss or conductive deafness
- Often due to malformations of the middle ear and ear canal
- Hearing aids are usually helpful
Dry eye syndrome
- Eyes may not make enough tears, leading to irritation and recurrent infections

Breathing, Feeding, and Speech

Breathing problems
- A small lower jaw and normal-sized tongue can narrow the airway
- May cause sleep apnea or breathing difficulty, especially in infancy
- In severe cases, a tracheostomy (surgical opening in the windpipe) may be needed
Feeding problems
- Cleft palate can make it hard for babies to suck and swallow properly
Speech problems
- Often related to cleft palate, hearing loss, or both

Children and teens with Treacher Collins syndrome may experience:

Low self-esteem
Anxiety or depression, especially due to social stigma or bullying

Access to mental health support in Grand Rapids—through local pediatric psychologists, school counselors, and community programs—is an important part of care.

What Causes Treacher Collins Syndrome?

Treacher Collins syndrome is caused by changes (mutations) in specific genes that are important for facial development during early pregnancy.

Key Genes Involved

TCOF1 gene
- Responsible for normal facial bone and tissue development
- Changes in this gene cause about half of all cases
POLR1C and POLR1D genes
- Account for a small percentage of cases

These genes are active very early in pregnancy (around weeks 3–8). When they do not work properly, cells that help form the bones and tissues of the face may die too early (a process called apoptosis), leading to the typical facial features of Treacher Collins syndrome.

Is Treacher Collins Syndrome Inherited?

Treacher Collins syndrome can be:

1. A New (Spontaneous) Gene Change

In many children, Treacher Collins syndrome is caused by a new change in a gene at the time of conception. Neither parent has the condition or the gene change. This is a chance event and cannot be prevented.

2. Inherited in Families

In other cases, Treacher Collins syndrome is inherited as an autosomal dominant condition:

A parent with Treacher Collins syndrome has one altered copy of the gene and one normal copy.
Each child has a 50% (1 in 2) chance of inheriting the altered gene.
The severity of symptoms cannot be predicted, even if the gene change is known.

Because of these inheritance patterns, families in Grand Rapids are often referred to genetic counseling services to understand their risks and options.

Possible Complications

Complications depend on how severe the facial and ear differences are. Common issues include:

Feeding problems (especially with cleft palate)
Breathing difficulties and sleep apnea
Speech and language delays due to cleft palate and/or hearing loss
Hearing loss (usually conductive)
Dry eye syndrome and recurrent eye infections
Dental and bite problems (malocclusion)
Psychological and social challenges

In Michigan’s cold, dry winters, children with dry eye or airway issues may have more symptoms due to dry indoor air and respiratory infections. Using humidifiers and following your child’s care plan can help.

How Treacher Collins Syndrome Is Diagnosed in Grand Rapids

Diagnosis is usually based on physical examination and medical history. A doctor will look for the typical facial features, ear differences, and hearing problems.

Common Diagnostic Steps

Physical exam by a pediatrician or craniofacial specialist
Medical and family history
Hearing tests (audiology)
Imaging studies (such as CT or MRI) to look at facial bones and ear structures
Genetic testing
- Can confirm the diagnosis
- Identifies which gene is affected (TCOF1, POLR1C, POLR1D, or others)

In Grand Rapids, evaluation may start with your pediatrician or family doctor, with referrals to specialists within systems like Corewell Health, Trinity Health Grand Rapids, or U of M Health-West. Genetic testing is typically arranged through clinical genetics services at major hospitals or regional centers in Michigan.

Treatment Options for Treacher Collins Syndrome

There is no cure for Treacher Collins syndrome, but many treatments can improve breathing, feeding, hearing, speech, appearance, and quality of life. Care is usually team-based and continues as the child grows.

Multidisciplinary Care Team

Children in Grand Rapids may be cared for by a team that includes:

Pediatrician
Craniofacial (skull and face) surgeon or plastic surgeon
Ear, nose, and throat (ENT) specialist
Audiologist (hearing specialist)
Ophthalmologist (eye doctor)
Dentist and orthodontist
Speech-language pathologist
Genetic counselor
Psychologist or social worker

Common Treatments

1. Breathing and Feeding Support

Positioning and special feeding techniques in infancy
Treatment for sleep apnea (e.g., CPAP, surgery)
Tracheostomy in severe cases to secure the airway

2. Hearing Management

Hearing aids (often bone-conduction devices)
Regular hearing checks to support speech and language development
Early intervention programs through Kent County and local school districts

3. Speech and Language Therapy

Speech therapy to:
- Improve pronunciation and clarity
- Address issues from cleft palate or hearing loss
In Grand Rapids, speech-language pathologists are available through hospital systems, private clinics, and school-based services.

4. Dental and Orthodontic Care

Regular dental care to prevent cavities and manage crowded teeth
Orthodontic treatment to correct bite problems (malocclusion)

5. Eye Care

Treatment for dry eyes (artificial tears, ointments)
Monitoring and treatment of eye infections
Surgery to correct droopy lower eyelids or incomplete eye sockets when needed

Craniofacial and Reconstructive Surgery

Craniofacial surgery plays a major role in managing Treacher Collins syndrome. The goal is to improve both function (breathing, eating, seeing, hearing) and appearance.

Possible Surgical Procedures

Closure of cleft palate
Reconstruction of the lower eyelids
Repair of missing or underdeveloped facial bones, including:
- Cheekbones
- Lower eye sockets
Ear reconstruction
Rhinoplasty (nose surgery) to improve appearance and airflow
Orthognathic surgery (jaw surgery) to reposition the lower jaw

Timing of Surgeries

The timing depends on the child’s growth and individual needs. A common sequence might include:

Infancy
- Eye procedures (if needed to protect vision)
- Airway surgeries or tracheostomy in severe cases
Early childhood (around 1–2 years)
- Cleft palate repair
School age (around 5–7 years)
- Ear reconstruction
Adolescence
- Jaw surgery and major facial reconstruction, once facial growth is nearly complete
- Rhinoplasty and final cosmetic refinements

In Michigan, many families from Grand Rapids travel to regional craniofacial centers for these complex surgeries, while routine follow-up can often be done locally.

Genetic Counseling for Families in Grand Rapids

If your child has Treacher Collins syndrome—or if it runs in your family—genetic counseling can be very helpful.

What Genetic Counselors Do

Genetic counselors:

Explain what causes Treacher Collins syndrome
Review how it is inherited
Discuss your chances of having another child with the condition
Talk about genetic testing options for:
- Affected individuals
- Parents and siblings
- Couples planning a pregnancy
Provide emotional support and connect you with support groups

Families in Grand Rapids can access genetic counseling through large hospital systems and regional genetics clinics in Michigan. Your primary care doctor or pediatrician can provide a referral.

Support and Resources in Grand Rapids and Michigan

Living with Treacher Collins syndrome can be challenging, but many resources are available to help families in West Michigan.

Local and Regional Resources

Your primary care provider (PCP) or pediatrician
First contact for concerns, referrals, and ongoing care.
Craniofacial and plastic surgery clinics
Available through major hospital systems and regional centers in Michigan.
Audiology and speech therapy services
Offered by Grand Rapids hospitals, private practices, and school programs.
Kent County Health Department & Grand Rapids Public Health
Can help connect families to local early intervention, developmental, and social services.
Genetic support organizations in Michigan
Can link you with other families affected by Treacher Collins syndrome and related conditions.

Ask your care team for up-to-date contact information for:

Clinical genetics services in Michigan
Statewide family support networks for genetic and craniofacial conditions
National Treacher Collins syndrome support groups

Key Points About Treacher Collins Syndrome

Treacher Collins syndrome is a genetic condition that affects the development of the skull, cheekbones, jaw, ears, and eyes.
It often causes facial differences and hearing loss, but intelligence is usually normal.
It can be caused by a new gene change or inherited as an autosomal dominant condition.
Symptoms range from very mild to severe, and the severity cannot be predicted, even within the same family.
There is no cure, but surgery, hearing support, speech therapy, dental and eye care, and psychological support can greatly improve quality of life.
Families in Grand Rapids, Michigan have access to comprehensive care through local health systems, genetic counseling services, and regional craniofacial centers.

If you live in the Grand Rapids area and are concerned about Treacher Collins syndrome, start by speaking with your pediatrician or family doctor. They can guide you to the right specialists and resources in West Michigan and across the state.