FGFR3-associated coronal synostosis syndrome, better known simply as Muenke syndrome, is a craniofacial condition and the most common form of craniosynostosis. Muenke syndrome is a congenital condition that is usually genetic and affects children. It can also affect adults if they never get proper treatment to correct the condition.
Muenke syndrome is usually diagnosable at the time of birth or even before birth with an ultrasound. Children with this condition will have skulls that appear short and flat in the front or back and extra-wide from side to side. In addition to the abnormal head and face shape that children with Muenke syndrome have, they are at high risk of hearing, eating, and developmental delays.
Because of these risks and complications, it is important to have Muenke syndrome diagnosed and treated promptly. Unlike other craniofacial disorders, Muenke syndrome typically does not resolve on its own. As such, the following treatments are often necessary in instances when Muenke syndrome can potentially cause problems.
While Muenke syndrome typically will not self-correct as the child ages, it is sometimes mild enough that treatment is not necessary. In these instances, your child will require careful monitoring to ensure that their condition does not get worse. They will also need monitoring to ensure that they do not start to have hearing or developmental problems. If their condition worsens, additional treatment will be necessary.
In situations where treatment is necessary, the first phase often involves multiple types of surgeries. Surgery is performed to correct the shape and size of the skull as well as to correct any other deformities in the face and head.
Depending on how badly deformed the face and skull are because of Muenke syndrome, your child will require cranial reconstruction surgery. Cranial reconstruction surgery is done to lengthen the front of the skull and make it skinnier from side to side. This type of surgery is highly invasive and involves reshaping and reforming the skull to give it a normal shape.
In some cases, certain parts of the skull are pressing too closely against the brain and must be removed by a neurosurgeon.
In addition to reshaping the skull, surgery may also be necessary to repair parts of the ears, nose, and throat. This is done to prevent hearing, speaking, and swallowing problems, which are common side effects of Muenke syndrome. The most common surgery necessary is to repair the cochleas because the hairs of the cochlea do not form correctly. This can cause echoing and sound wave pattern changes, resulting in major hearing problems.
In cases where the shape of the skull affects the mouth and teeth, your child may need oral surgery. Oral surgery is done to correct their bite pattern and to align the teeth properly. Oral surgery can also help with speech and eating difficulties.
In cases where you want to avoid surgically repairing the cochleas, you may be able to opt for hearing aids for your child. Hearing aids will correct your child’s hearing problems so that sound travels through their ears in a normal pattern. It will also help to amplify sounds so that the underdeveloped cochlear hairs can detect them until they are fully developed. However, if the cochlear hairs are too damaged, your child may need cochlear implants rather than hearing aids.
In many instances, the shape of the face and skull will affect your child’s ability to eat, speak, and swallow. When this happens, they will need speech therapy to correct these issues.
Muenke syndrome is a frightening condition, particularly for parents. However, with an early diagnosis and proper treatment, Muenke syndrome can be corrected, and children with this condition live long and normal lives.