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Craniofacial Syndrome: Muenke

Muenke syndrome results from an early closing (fusion) of the skull’s side (coronal) sutures, and occurs with a frequency of one in 30,000 live births.

Individuals with this syndrome are typically characterized by the following differences:
• unusually shaped head
• flat-looking mid-face
• wide-set eyes
• hearing loss
• minor defects in the hands and feet

Additional characteristics that may be present include:
• enlarged head (in 5 percent of cases)

Treatment may include surgical release of any fused skull sutures, mid-face advancement, and eye surgery.

Muenke syndrome was named for genetics doctor, Max Muenke. Originally from Germany and currently practicing in the United States, Dr. Muenke led the team that discovered this condition in 1996.

Muenke syndrome is also called FGFR3-associated coronal synostosis, Pro250 Arg, and the P250R mutation.

What Happened?

A baby’s skull is comprised of separate bones connected by sutures, rather than fused bone. These sutures allow the skull to expand as the brain grows. If any (or all) of these sutures close prematurely, the skull cannot grow/form as it usually would, resulting in what is known as craniosynostosis.

In the case of a craniosynostosis-related syndrome, current research points to problems in the genes responsible for producing proteins to regulate cell growth rate and/or cell growth limits. Muenke, Apert, Carpenter, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes fall into this craniosynostosis-related category.

During early development in the womb, a baby's FGFR-3 gene is supposed to make the normal protein that develops and maintains brain tissue. In the case off Muenke syndrome, it makes a hyperactive protein instead that interferes with bone growth, causing skull sutures to close early.

The cause of Muenke syndrome is a gene alteration, which is sporadic. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Muenke syndrome. If both parents do not have Muenke syndrome, their chances of having another child with Muenke is minimal. If a parent has Muenke syndrome, the chances that one or all of his/her children will have it are approximately 50 percent.

What to Do?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.

We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.

Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.

In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.