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."

Muenke Syndrome Characteristics.

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)

Muenke Syndrome Treatment

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

What is the Cause of Muenke Syndrome?

The most common craniofacial syndrome, Muenke, results from an early closing (fusion) of the skull's side (coronal) sutures. Muenke syndrome occurs with a frequency of one in 30,000 live births-about twice as common as Apert, Crouzon and Saethre-Chotzen syndromes, and three times as common as Pfeiffer syndrome.

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, 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 maintain brains 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. 

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