Muenke syndrome

What is Muenke syndrome?

Muenke (MUN-kuh) syndrome is a condition a baby can have at birth that can cause abnormalities in the bones of the skull, and sometimes in other areas of the body. It affects about one in 30,000 babies.

The main symptoms of Muenke syndrome are:

• Craniosynostosis
• Hearing loss
• Developmental delay
• Bone abnormalities in the wrists and heels
• Behavioral differences

Muenke syndrome has symptoms in common with other types of syndromic craniosynostosis. Because of this, it is important for doctors to find out exactly which syndrome a baby has to make sure they get the right treatment.

Something that sets Muenke syndrome apart from other types of syndromic craniosynostosis is hearing loss. More than 70% of babies with Muenke syndrome have some form of hearing loss. It is usually mild and for specific tones.

The symptoms of Muenke syndrome can be mild to severe. In fact, some babies never have any symptoms. When babies do have symptoms, they can include a wide range of conditions in various parts of the body. In addition to an abnormally shaped head, symptoms can include:

• Wide-set eyes
• Bulging at the temples
• Droopy eyelids or mild bulging of the eyes
• Flattened cheekbones
• Cleft lip and palate
• Enlarged head
• Crossed eyes
• Mild abnormalities of the hands or feet, such as short/broad thumbs and big toes
• Hearing loss that is usually mild
• Developmental delay
• Learning problems
• Behavioral issues
• Abnormal brain structures
• Seizures
• A smaller, flatter nose
• Upper and lower teeth that don’t fit together correctly
• Lower jaw slightly out of position
• Smaller than normal ears set lower on the face

What causes Muenke syndrome?

A specific type of abnormality in a gene, called the FGFR3 gene, causes Muenke syndrome. The abnormality changes how bones grow. About two-thirds of babies who have Muenke syndrome inherit the condition from a parent. For others, the gene abnormality happens on its own as the baby develops in the womb.

Muenke syndrome doesn’t always cause symptoms in every person who has it. It is possible to carry the abnormal gene and not have any medical problems. Doctors call this reduced penetrance. Complete penetrance means that everyone who has the gene will always have symptoms.

When a baby is born with Muenke syndrome, it’s recommended that the baby’s parents talk with a genetic counselor. If one parent has the abnormal gene, every child from that parent has a 50/50 chance of inheriting Muenke syndrome. And even though the parent may not have symptoms, the child could. There isn’t any way to predict whether or not a child would have symptoms or how severe they might be.

How is Muekne syndrome diagnosed?

Doctors may suspect a baby has Muenke syndrome based on a physical exam at birth. When a baby is born with an abnormally shaped head and certain facial features, doctors will usually run tests. These can include x-rays and CT scans to look at the bones in the skull and other areas of the body. These tests can help confirm the diagnosis and also help doctors make decisions about treatment. Genetic testing shows whether or not the baby has the abnormal gene for Muenke syndrome.

Treatment for Muenke syndrome

Because symptoms of Muenke syndrome can vary so widely, treatment for every child could be different. It’s important for babies with the syndrome to get care from a pediatric center that has all the experts needed for babies with Muenke syndrome. These can include:

• Craniofacial surgeon
• Neurosurgeon
• Clinical geneticist or genetic counselor
• Ophthalmologist
• Ear, nose and throat doctor (otolaryngologist)
• Pediatrician
• Radiologist
• Psychologist
• Dentist
• Hearing specialist (audiologist)
• Speech therapist
• Social worker

The treatment for babies born with an abnormally shaped head is surgery, and this is usually done while the baby is under a year old. Learn about surgery for craniosynostosis. Depending on what symptoms the baby has, other surgeries may be needed for problems with the eyes and other areas. Babies with hearing loss may need hearing aids as they grow and speech therapy as they learn to talk.

Babies with Muenke syndrome will need to be monitored by their care teams throughout childhood to make sure they are growing and developing to their best potential.

Long-term outlook for Muenke syndrome

Muenke syndrome does not affect every baby the same. Some babies have no symptoms. Others can have symptoms in different places in the body. But overall, when a baby does have symptoms, the ones who begin treatment with a team who has experience in caring for the condition do better. The team can watch for changes as the baby grows and help treat any symptoms that may develop.

Babies with Muenke syndrome sometimes have developmental delays and learning problems, but these are usually mild. Speech is the most common developmental delay. Sometimes behavioral issues, like attention-deficit/hyperactivity disorder (ADHD), can happen.

With early treatment and good care for symptoms throughout childhood, babies with Muenke syndrome can reach their full potential.

Get help at Children’s of Mississippi

The craniofacial team at Children’s of Mississippi is experienced in all aspects of care for children with Muenke syndrome. We have all the pediatric specialists needed to manage the range of symptoms that can be a part of this diagnosis, including genetic counselors to help parents understand any family impact. You can request a consultation with our pediatric craniofacial surgeons. They will be happy to answer your questions and help you understand your options. Schedule an appointment online.

Last reviewed: April 7, 2026