Question

Genetic Disorders

What are the symptoms of Muenke syndrome?

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  • General: Symptoms of Muenke syndrome may vary among individuals, even among members of the same family. About 6%-7% of people with the genetic mutation that causes Muenke syndrome do not show the classic symptoms described below.

    Face: Abnormal bone growth may cause people with Muenke syndrome to have distinctive facial features. These may include wide-set eyes and flattened cheekbones. Other facial features may include droopy eyelids, an underdeveloped mid-face, and a high, arched palate.

    Skull: An infant's skull is made of several bones connected by growth areas called sutures. In an adult skull these sutures are nothing more than wiggly lines, but in a child they permit bone growth along their borders and allow the skull to enlarge normally. Most people with Muenke syndrome have premature fusing of these skull bones, which is called craniosynostosis. In particular, this affects the growth line or suture extending over the head from ear to ear. This can cause the skull to be broad or tower-shaped. The two sides of the skull may or may not be symmetrical. Other growth lines of the skull may also be affected. About 5% of people with Muenke syndrome also have an abnormally large head. Females may be more likely to have skull involvement than males.

    Other: Some people with Muenke syndrome may have problems with the hands and feet such as short fingers and toes, fusion of the bones in the wrists and ankles, and short or abnormally shaped bones in the fingers and toes. About one third of people with the condition experience hearing loss of unknown origin. Intellectual disability and developmental delays have been reported in about one third of people with Muenke syndrome. Intellectual disability may be affected by or related to hearing loss. It is not clear whether intellectual ability is related to structural skull abnormalities.

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