Conditions

Muenke Syndrome

  • Schedule an appointment with the Craniofacial Center

    If this is a medical emergency, call 911.

  • Find a doctor
  • Locations
  • Refer a patient
    • If you are a provider, fax a New Appointment Request Form (NARF) (PDF) (DOC) to 206-985-3121 or 866-985-3121 (toll-free).
    • Instead of fax, you can use EpicCare Link, an online method for submitting referrals and tracking referral status. If you don’t have an EpicCare Link login, learn more.
    • No pre-referral work-up is required, but it is helpful to receive clinical information (such as head circumference and a description of head shape). Fax any clinic notes along with the NARF.
    • If imaging studies (CT, MRI, X-rays) have been done, please upload to PowerShare  or mail a disc to:
      Seattle Children’s Craniofacial Center
      P.O. Box 5371/OB.9.520
      Seattle, WA 98145-5005
    • View our complete Craniofacial Center referral information.

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.

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 seeing.

Some have small differences in their hands and feet. Most children with Muenke syndrome have normal cognitive development. About 30% have delayed development.

Muenke syndrome happens in 1 of 30,000 newborns.

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.

What causes Muenke syndrome?

Muenke syndrome happens because of a change (mutation) in a gene 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 an abnormal gene to a child.

Muenke Syndrome at Seattle Children’s

Many families have never heard of craniosynostosis before their child is born with Muenke syndrome. Each year we care 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.

Many of our patients are newly diagnosed babies. We also work with children who received their initial care at another hospital.

Please call the Craniofacial Center at 206-987-2208 for more information, a second opinion or to make an appointment.

  • Our experience improves care for Muenke syndrome

    Every year we care for more than 150 children with craniosynostosis syndromes, including Muenke.

    Our experience with craniofacial conditions helps us find problems early and take steps to prevent or treat them. We watch carefully for problems that may develop with your child’s breathing, eating, seeing, hearing and cognitive development.

    Over the past 5 years, we have cared for 11 children with Muenke syndrome. Our experience with this rare condition helps us to continually improve our care. We can recommend the right treatment at the right time to have the best results for your child and your family.

  • Specialists to cover all your child’s needs

    Our center has experts in every field your child might need. These 50 specialists work together to diagnose and care for our patients.

    Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family doctor, to manage your child’s personalized care.

    A craniofacial pediatrician, nurse and social worker will work closely with your family. They help coordinate care and make sure all your questions are answered.

    Your pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include a craniofacial plastic surgeon, pediatric neurosurgeon, feeding therapist, dietitian, eye doctor (ophthalmologist), ear-nose-throat doctor (otolaryngologist), oral-maxillofacial surgeon, orthodontist, hearing specialist (audiologist) and speech and language pathologist (SLP).

    We care for care for your child’s physical, emotional and comfort needs. Read more about the supportive care we offer.

  • Your child is in the hands of experts

    Every child is different. Our team is skilled at performing the surgery your child might need. Surgery might expand your child’s skull or align their jaw.

    • 3-D imaging and powerful software help us predict how your child’s bones will grow in the future. Our surgeries and orthodontic corrections take into account continued growth of your child’s bones. When your child is finished growing, their bones are in the desired position.
    • A craniofacial plastic surgeon and pediatric neurosurgeon work as a team during surgery on your child’s skull.
  • We support your whole family

    A diagnosis of Muenke syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    As your child gets older, we make sure they play a role in decisions about their medical care.

    Our child life specialists and social workers support your child and family through the challenges of this condition. We help you find community resources and support groups.

    Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This experience has helped us develop systems to provide outstanding, personalized care at great distance.

  • Research to advance care

    Our team has created a plan (clinical care pathway) to treat craniosynostosis, which guides our treatment of related syndromes like Muenke. Our plan is based on the research evidence about what is most effective.

    We receive more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

    Our research is helping us to:

    • Better understand the 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

    Learn about craniosynostosis research at Seattle Children’s.

Symptoms of Muenke Syndrome

Symptoms of Muenke syndrome vary widely, even in members of the same family who have the syndrome. Many children have a head that is an unusual shape. Some children have facial differences.

  coronal suturesDrawn by Raymond Sze

These changes result from the early closure of the soft, fibrous seams (sutures) between the skull bones. Muenke syndrome affects one or both coronal sutures at the top and front of the skull (bicoronal synostosis). But other sutures may 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.

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:

  • One side of the face may not match the other (facial asymmetry)
  • Droopy eyelids (ptosis)
  • Widely spaced eyes
  • Eyes that bulge out (proptosis)
  • Flat cheekbones

Most children with this condition have normal cognitive development. 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 mutation in the FGFR3 gene to confirm the diagnosis.

    Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our geneticists and genetic counselors 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 abnormal gene 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.

Contact Us 

Contact the Craniofacial Center at 206-987-2208 for an appointment, a second opinion or more information.

Providers, see how to refer a patient.

  • Schedule an appointment with the Craniofacial Center

    If this is a medical emergency, call 911.

  • Find a doctor
  • Locations
  • Refer a patient
    • If you are a provider, fax a New Appointment Request Form (NARF) (PDF) (DOC) to 206-985-3121 or 866-985-3121 (toll-free).
    • Instead of fax, you can use EpicCare Link, an online method for submitting referrals and tracking referral status. If you don’t have an EpicCare Link login, learn more.
    • No pre-referral work-up is required, but it is helpful to receive clinical information (such as head circumference and a description of head shape). Fax any clinic notes along with the NARF.
    • If imaging studies (CT, MRI, X-rays) have been done, please upload to PowerShare  or mail a disc to:
      Seattle Children’s Craniofacial Center
      P.O. Box 5371/OB.9.520
      Seattle, WA 98145-5005
    • View our complete Craniofacial Center referral information.