Muenke Syndrome

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What is Muenke syndrome?

Muenke syndrome is a genetic form of craniosynostosis – the early closing of 1 or more of the soft, fibrous seams (sutures) between the skull bones. Muenke is pronounced MUN-kuh. Muenke syndrome happens in 1 of 30,000 newborns.

The effects of the syndrome vary widely, even in members of the same family.

Muenke syndrome often causes an abnormal head shape, wide-set eyes and flattened cheekbones. Some children with this syndrome have problems with hearing and vision or other differences.

Children with Muenke syndrome need coordinated care by providers in many areas of healthcare. At Seattle Children’s Craniofacial Center, our team has experts from 19 different specialties to provide the care that's best for your child.

What causes Muenke syndrome?

Muenke syndrome happens because of a change (variant) in a that affects how bones grow. The gene is called FGFR3 (fibroblast growth factor receptor 3).

We do not know why this happens. It is not because of anything that the parents do or do not do during pregnancy.

Most children with Muenke syndrome have it because of a new genetic change that was not passed on from their mother or father. Less often, a parent passes the gene variant to a child.

Muenke Syndrome Care at Seattle Children’s

When it comes to diagnosing and treating craniofacial conditions, our team is among the most experienced in the world. No matter how rare the condition or syndrome, we have likely cared for someone like your child.

What are the symptoms of Muenke syndrome?

Many children with Muenke syndrome have a head that is an unusual shape. Some children have facial differences.

These changes result from the early closure of the sutures. Muenke syndrome affects 1 or both coronal sutures along the sides of the skull (bicoronal synostosis). Other sutures may also be involved.

Normally, the sutures expand as the brain grows. If a suture closes early, it changes the shape of the head and reduces room for the growing brain. This can increase pressure inside your child’s skull.

Drawing of young child showing coronal sutures in the skull Drawn by Raymond Sze

Differences in the shape of the skull vary quite a bit. Your child’s head might be:

Tower shaped (turribrachycephaly)
Wide and flat in back (brachycephaly)
Unusually large (macrocephaly)

Your child may have these differences affecting their face:

Left and right sides of the face do not match (facial asymmetry)
Eyelids droop (ptosis)
Eyes are widely spaced
Eyes stick out (proptosis)
Cheekbones are flat

Most children with this condition have normal . About 30% have delayed development.

Other differences may include:

Fingers or toes that are short, broad or bent
Hearing loss
Crossed eyes (strabismus)

Diagnosing Muenke Syndrome

To diagnose this condition, your doctor will examine your child’s skull carefully. The shape will help the doctor tell whether any of the sutures in the skull have closed too soon.

Your child’s features will help the doctor tell whether they have Muenke syndrome or another condition.

A CT (computed tomography) scan of your child’s head can give the doctor more information and help us plan the best treatment for your child.

Genetic counseling and testing

Your doctor may also test your child’s blood for a variant in the FGFR3 gene to confirm the diagnosis.

Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our and can advise you about the pros and cons of genetic testing. They explain test results and your chance of having a child with Muenke syndrome in a future pregnancy.

A genetic counselor also will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Our genetic counselors also advise people with genetic syndromes about their chance of having a child with the condition.

A person with Muenke syndrome has a 50% chance in each pregnancy of passing the gene variant to their child.

Treating Muenke Syndrome

There is no single treatment plan for Muenke syndrome. The treatments and timing we recommend depend on how your child is affected by the syndrome.

Our goal is to minimize the number of steps during treatment by improving the outcome of each step.

Keeping the brain healthy with room to grow

Many children with Muenke syndrome will need surgery to expand and reshape their skull. The timing of surgery will depend on which seams have closed too soon and how many seams are affected. Some children do not need surgery.

Most children need surgery to move their forehead and upper eye sockets forward when they are about 1 year old. It is called fronto-orbital advancement.

Our craniofacial plastic surgeon and neurosurgeon work together during surgery to protect your child’s brain and have the best result.

Your child’s team also will check for signs of increased pressure in the skull. This may happen when your child is a baby or as your child grows.

During follow-up visits, we ask about warning signs of increased pressure. Signs of increased pressure are headaches or problems with eyesight. If there are concerns, your child may have imaging scans or a special eye exam to check for swelling at the back of the eye.
Managing hearing loss

Some children with Muenke syndrome have some hearing loss. Usually the loss is mild.

Your baby’s hearing is screened in the hospital soon after birth or within a few days. If problems are found, we do further testing. A specialist trained to test hearing in infants and children (audiologist) will perform the tests.

As your child grows, they will have a variety of hearing tests based on their ear health and how well they hear.

Our ear, nose and throat specialist (otolaryngologist) and audiologist will talk with you and your child about hearing management.
Evaluating the eyes and vision

Some children with Muenke syndrome have droopy eyelids (ptosis). In some children, the eyes do not align.

If your child has crossed eyes (strabismus), we will check their vision regularly starting before age 2.

Crossed eyes should be corrected during early childhood to prevent lazy eye (amblyopia). In lazy eye, 1 eye does not develop normal vision.

Your child may need to wear an eye patch. Some children may need eye surgery.
Aligning the teeth and jaws

As they enter their teen years, children with Muenke syndrome may need orthodontic treatment or jaw surgery. This surgery corrects how your child’s upper and lower teeth fit together (occlusion).

The best procedure depends on your child. For many children with Muenke syndrome, the best option is double jaw surgery. It combines Le Fort I maxillary advancement and mandibular osteotomy. This happens at 16 to 18 years old, after the bones of the face have finished growing.

Our surgeon and craniofacial orthodontist work together, and with you and your teen, to plan and carry out treatment.

Read more about craniofacial orthodontics.
Developmental assessment and support

Most children with Muenke syndrome have normal cognitive development. But about 30% have learning problems or developmental delays.

We carefully watch your child’s development. If we find delays, we recommend treatments and support services to help your child reach their full potential. An occupational therapist (OT), physical therapist (PT) or speech therapist may also work with your child.

If needed, your craniofacial pediatrician and social worker refer you to resources in your community for children with developmental issues.

Why choose Seattle Children’s for Muenke syndrome treatment?

Each year, Seattle Children’s Craniofacial Center cares for hundreds of children with craniosynostosis, including rare syndromes like Muenke. Our team has more experience caring for children with craniosynostosis than any other center in the United States. We have experts in every field your child might need.

Many of our patients are newly diagnosed babies. We also work with children who received their initial care at another hospital. We treat children, teens and young adults up to age 21 and sometimes beyond.

The right treatment at the right time: Our experience helps us find problems early and take steps to prevent or treat them. We watch carefully for problems with your child’s breathing, eating, vision, hearing and development and recommend care for any issues they have.
Better results with fewer surgeries: Our approach helps children with Muenke syndrome get the most benefit from surgeries early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive.
Team-based care from experts: We’ll bring together all the team members your child needs, such as a craniofacial , nurse, , , craniofacial , pediatric , feeding therapist, , eye doctor (), ear, nose and throat doctor (), , , and .
Support for your whole family: A diagnosis of Muenke syndrome can be scary. We take time to explain your child’s condition. We help you understand your child’s treatment options and make the choices that are right for your family.
Research to improve care: Our team created a clinical care pathway to guide treatment for craniosynostosis based on research about what is most effective. Our research is helping us to:
- Better understand the genetic causes of craniosynostosis.
- Study how the condition affects learning and behavior.
- Build a library of 3-D images to better measure the results of surgery and improve treatments.