Children's Hospital Colorado

Muenke Syndrome

What is Muenke syndrome?

Muenke syndrome is a condition characterized by abnormalities of the skull. Patients with Muenke syndrome have great variability in presentation. The following conditions may or may not be associated with an individual with Muenke syndrome: developmental delay, limb abnormalities or high arched palate.

Who gets Muenke syndrome?

Muenke syndrome is a rare congenital condition that occurs in 1 of 30,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion from a parent with Muenke syndrome, or be due to a fresh genetic mutation. A parent with Muenke syndrome has a 50% chance of passing the condition to a child. The mutation occurs in the fibroblast growth factor receptor 3 (FGFR3) gene.

What are the symptoms of Muenke syndrome?

The skull is affected by craniosynostosis, or premature fusion of one or both sides of the coronal suture. This results in an abnormal head shape. The child may also have a large head, abnormalities of the hands and feet or hearing loss. Phenotypic variability is common.

How is Muenke syndrome diagnosed?

Examination of your child's skull, face and body will help guide your child's doctor at Children's Hospital Colorado towards a correct diagnosis. You will be seen by a geneticist to test whether your child has the genetic mutation that causes Muenke syndrome. A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Muenke syndrome.

How is Muenke syndrome treated?

A thorough evaluation by the experts at the Craniofacial Center will be undertaken. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.

The main concerns in the early treatment planning for children with Muenke syndrome have to do with the brain and vision.

The premature fusion of multiple sutures in the skull may cause restriction on the growing brain. This constriction can cause increased intracranial pressure. In order to release the pressure, surgery on the skull may need to be undertaken within the first year. This may be in the form of cranial remodeling or distraction osteogenesis, depending on the specific needs of the child. If there is no evidence of increased intracranial pressure, the surgery to correct craniosynostosis is usually undertaken between 6-12 months.

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