General: Muenke syndrome is generally detected during infancy. A clinician should complete a thorough physical exam and obtain a complete family history. In particular, a clinician should look for characteristic symptoms that affect the face, skull, hands, and feet.
Hearing test: A hearing test, or audiogram, may help diagnose the condition. During an audiogram, the patient wears headphones and is exposed to various sounds that have different pitches and frequencies. The patient is asked to indicate each time a sound is heard. The audiologist may also say various words to evaluate the patient's hearing ability.
Imaging: X-rays or computed tomography (CT) can reveal abnormalities of the skull, including premature fusion of the growth lines or sutures extending over the head from ear to ear (craniosynostosis). Magnetic resonance imaging (MRI) or CT of the brain can also reveal whether fluid has accumulated around the brain. In addition, X-ray can be used to view the bones of the wrists, ankles, fingers, and toes. Some of these changes may not be visible until an individual is older. CT is an X-ray technique that allows clinicians to see internal body structures in cross-sectional images rather than in the overlapping images usually produced by X-rays. MRI uses a magnetic field, radio waves, and a computer to produce pictures of internal structures of the body, which can be printed or observed on a computer screen.
Genetic testing: If Muenke syndrome is suspected, a genetic test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the FGFR3 gene. If this defect is detected, a positive diagnosis is made.
Prenatal DNA testing: If there is a family history of Muenke syndrome, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can diagnose Muenke syndrome. However, because there are serious risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional.
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