FGFR3-associated coronal synostosis syndrome is a craniofacial condition that causes anomalies in the skull and/or face. Better known simply as Muenke syndrome, FGFR3 is a genetic condition that gets passed on from parents to their children. Muekne syndrome falls into a category of facial disorders known as craniosynostosis and is the most common of these types of conditions.
Muenke syndrome occurs when one or both of the coronal sutures in the skull fuse together during pregnancy. Because of this premature suturing, the skull is shorter either in the front or the back but extra wide on one or both sides. In addition to giving the head and face of children with Muenke syndrome a strange shape and look, this condition can also cause smelling, eating, and hearing problems, as well as learning disabilities.
The most noticeable sign that your child has Muenke syndrome is the shape of their head and face. However, because other craniofacial conditions can cause similar symptoms, it is important to look for other signs of Muenke syndrome. Additionally, Muenke syndrome can take many different shapes and forms and varies from child to child.
The most common side effect of Muenke syndrome is that children with the condition will have hearing and learning problems. Hearing problems happen because the cochlear hairs inside the ear form abnormally, resulting in strange echoing and pathways for sounds.
Muenke syndrome is always a congenital condition, which means it starts inside the womb and is present from the time of birth. In many cases, it is inherited in that it gets passed on from parents to children, thanks to a genetic mutation in the Fibroblast Growth Factor Receptor 3 gene (FGFR3.) In rare instances, however, the mutation to the FGFR3 gene can happen even if neither parent is a carrier of the mutation.
Unless both parents are carriers of the genetic mutation, the causes and risk factors associated with Muenke syndrome are unknown.
In many cases, doctors can diagnose Muenke syndrome based on the appearance of the child alone. This can happen prior to birth through an ultrasound or after the baby is born. Because of the extra-wide head, it is a good idea for mothers to know if their baby has Muenke syndrome, as it could make vaginal delivery more difficult.
However, because Muenke syndrome can mimic other craniofacial disorders, further testing to confirm a diagnosis may be necessary. In most cases, this includes a blood test to check for the genetic mutation that causes Muenke syndrome.
Some forms of Muenke syndrome are mild enough that they cause little to no changes in your child’s appearance. In these instances, your child also will not have many other hearing, speaking, or developmental problems.
However, if the signs and symptoms are too noticeable, it is important to get your child the treatment they need to live a normal life. Muenke syndrome treatment typically includes surgery to correct the shape and size of the skull. Additional surgery will likely be needed to correct the internal workings of the face and head, including the ears, nose, throat, cochlea, and more.
Hearing aids, physical therapy, and speech therapy may also be needed to help your child develop normally until they are old enough to undergo surgery safely. In most cases, with the right treatment plan, children with Muenke syndrome go on to live full and normal lives.