Introduction:
Craniosynostosis is the premature closure of one or more soft, fibrous sutures in the skull. Muenke syndrome is an inherited form of craniosynostosis. The syndrome's effects vary greatly, even among members of the same family. Muenke syndrome is distinguished by a malformed skull, wide-set eyes, and flattened cheekbones. Some children with this syndrome have hearing and vision problems. Some people's hands and feet have small variances. Around 30 percent of the Muenke syndrome-affected children have delayed development. Muenke syndrome affects one in every 30,000 babies.
What Is Muenke Syndrome?
Muenke syndrome is a developmental disorder defined by the premature closure of the coronal suture of the skull. This syndrome affects the shape of the face and head. Maximilian Meunke described Muenke syndrome. Many individuals with this Muenke syndrome have an early fusion of skull bones along the coronal suture, the growth line that runs from ear to ear. Other sections of the skull may also be deformed. These modifications can cause an unusually shaped head, wide-set eyes, and flattened cheekbones. Approximately 5 percent of the affected patients have an enlarged head or macrocephaly. Muenke syndrome patients may also have minor hand or foot deformities, and hearing loss has been reported in some instances. Most people with this illness have average intelligence, but developmental delays and learning issues are possible.
What Are the Other Names for Muenke Syndrome?
The synonyms for Muenke syndrome are the following.
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Mueke nonsyndromic coronal craniosynostosis.
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FGFR-3 associated coronal synostosis.
What Are the Causes of Muenke Syndrome?
Muenke syndrome occurs due to a specific FGFR3 gene mutation. The mutation appears randomly; there is no complete understanding of what causes it. This mutation over-activates the FGFR3 protein, interfering with normal bone formation and allowing skull bones to fuse early. Munke syndrome is an autosomal dominant condition. This means that if one of the parents has Muenke syndrome, every newborn has a 50 percent chance of inheriting it.
Is Muenke Syndrome a Common Condition?
Muenke syndrome is not a common condition. Muenke syndrome affects around one in every 30,000 births. Muenke syndrome is the most prevalent craniosynostosis syndrome, accounting for around four percent of all craniosynostosis cases.
What Are the Symptoms Associated With Muenke Syndrome?
Many Muenke syndrome patients have an early fusion of skull bones and coronal sutures. However, not every patient exhibits craniosynostosis. Other regions of the skull may also be deformed. This frequently results in an unusually shaped skull, wide-set eyes, low-set ears, and flattened cheekbones.
About five percent of those affected have an enlarged head. Hearing loss may be seen in 10 to 33 percent of cases, and affected individuals should have hearing tests to rule out the likelihood of a problem. They can lose between 33 to 100 percent of their hearing.
Other symptoms associated with Muenke syndrome are the following.
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Learning difficulties.
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Midface hypoplasia.
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Clove leaf skull.
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Temporal bossing.
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Cleft lip or palate.
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Ptosis.
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Widely spaced eyes.
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Behavioral issues.
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Developmental delay.
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Ocular anomalies.
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Broad thumbs.
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Intracranial anomalies.
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Bone fusions.
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Short phalanges.
What Are the Diagnostic Tests Used for Muenke Syndrome?
As Muenke syndrome children do not have a distinct appearance, unlike other kinds of craniosynostosis, diagnosis is usually made through a blood test to identify the exact gene mutation. Based on an aberrant skull shape and a coronal craniosynostosis diagnosis, Muenke syndrome is suspected. Clinical differentiation of this disease may be challenging because of phenotypic overlap or weak features.
A blood test to look for gene mutations verifies the suspected diagnosis. The identification of the FGFR3 pathogenic mutation by molecular genetic testing confirms the diagnosis of Muenke syndrome. Several assessments are advised to determine the severity of the condition in a person with Muenke syndrome.
As more is understood about Muenke syndrome, it becomes evident that children previously classified with other craniosynostosis syndromes, such as Crouzon, Pfeiffer, and Saethre-Chotzen syndrome, may have Muenke syndrome.
What Are the Treatment Options Available for Muenke Syndrome?
As Muenke syndrome can affect multiple body parts, treatment is best administered at a specialized center with a multidisciplinary team approach. Craniofacial surgeons, ear, nose, and throat (ENT) surgeons, neurosurgeons, dentists and orthodontists, audiologists (hearing specialists), geneticists, and speech and language therapists are usually part of the multidisciplinary team, with other specialists brought in as needed.
Muenke syndrome treatment primarily focuses on correcting the skull shape defects and is similar to the treatment of craniosynostosis. As aberrant growth patterns persist throughout the years, intervention, precise diagnosis, and a specific, carefully carried out treatment plan should be a top priority. Although the timing of surgery is highly specific, surgical repair of bi coronal craniosynostosis is most commonly performed between 6 and 12 months.
Surgery is typically performed through a scalp incision hidden within the hair of the head. The craniofacial surgeon will collaborate with a pediatric neurosurgeon to securely remove the skull bones. The craniofacial surgeon then redefines and repositions those bones to create a more natural skull appearance.
What Is the Prognosis of Muenke Syndrome?
The outlook for kids with Muenke syndrome is favorable. Muenke syndrome patients will need long-term monitoring, especially during critical development spurts in childhood and adolescence. Psychological support is beneficial for some kids and families throughout childhood and adolescence at different phases.
The majority of Muenke syndrome kids grow up to enjoy everyday lives. Since most kids have average intellect, they typically perform well academically. The development of speech and language is aided by early exposure to assistance.
Even though additional craniofacial surgery is uncommon, Muenke syndrome patients will need long-term monitoring, especially during critical development spurts in childhood and adolescence. Psychological support is beneficial for some kids and families throughout childhood and adolescence at different phases.
Conclusion:
Muenke syndrome is a rare genetic disorder that affects the shape of the skull and can lead to developmental delays and other health issues. Other variable characteristics of Muenke syndrome include hand or foot abnormalities, hearing problems, and cranial defects. While Muenke syndrome can be challenging to manage, early detection and management can significantly improve results for those affected. Individuals with Muenke syndrome usually need support and care from different specialists and a team of healthcare professionals.
