Presentation
In 70% of cases, children with Muenke syndrome present with both coronal sutures fused. In the remainder of cases, only one of the sutures will generally be involved. [med.unc.edu]
Patients with Muenke syndrome have great variability in presentation. The following conditions may or may not be associated with an individual with Muenke syndrome: developmental delay, limb abnormalities or high arched palate. [childrenscolorado.org]
Hearing loss is present in about one third of patients. While most people with this condition have normal intellect, developmental delay and learning disabilities have been reported. [rareguru.com]
The purpose of the present study is to increase our understanding of the clinical manifestations of Muenke syndrome through detailed physical, developmental, neurologic, dental, ophthalmologic, otolaryngologic, audiologic, radiologic, and genetic/genomic [clinicaltrials.gov]
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet. 1997;34:632–6. [ncbi.nlm.nih.gov]
Entire Body System
- Disability
Some patients have learning disabilities or developmental delay, although this tends to be mild. What Causes Muenke Syndrome? Muenke syndrome is a genetic condition. It is caused by a mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. [craniofacialteamtexas.com]
While most people with this condition have normal intellect, developmental delay and learning disabilities have been reported. [rareguru.com]
Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible. [wikidoc.org]
Jaw & Teeth
- High Arched Palate
Down-slanting palpebral fissures (the area between the open eyelids), droopy eyelids (ptosis) and high arch palate are often noted. 4-month-old with Muenke Syndrome. [chop.edu]
Musculoskeletal
- Macrocephaly
About 5 percent of affected individuals have an enlarged head (macrocephaly). Some people with Muenke syndrome have mild abnormalities of the hands or feet. Hearing loss is present in about one third of patients. [rareguru.com]
About 5 percent of affected individuals have an enlarged head (macrocephaly).There may also be associated hearing loss in 10 - 30% of cases and it is important for affected individuals to have hearing tests to check on the possibility of a problem. [wikidoc.org]
About 5 percent of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. [medlineplus.gov]
Others may have a slightly enlarged skull (macrocephaly) but no fused sutures. In others, either one or both coronal sutures fuse early leading to a misshapen skull. Around 10 per cent of children have epilepsy. [gosh.nhs.uk]
Your child’s head might be: Tower shaped (turribrachycephaly) Wide and flat in back (brachycephaly) Unusually large (macrocephaly) Your child may have these differences affecting their face: One side of the face may not match the other (facial asymmetry [seattlechildrens.org]
- Brachydactyly
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet. 1998;77:322–9. [PubMed: 9600744] Green PJ, Walsh FS, Doherty P. [ncbi.nlm.nih.gov]
Treatment
Treating Muenke Syndrome There is no single treatment plan for Muenke syndrome. The treatments and timing we recommend depend on how your child is affected by the syndrome. [seattlechildrens.org]
Muenke Syndrome Treatment Treatment of Muenke syndrome and other genetic mutation syndromes like it vary from syndrome to syndrome and patient to patient. This is true, even though, many of the syndromes share the same traits and causes. [craniofacial.net]
Because every patient with syndromic craniosynostosis has unique problems, the timing and course of surgical treatment is highly individualized. [chop.edu]
Surgical treatment The treatment of Muenke syndrome is focused on correction of the abnormal skull shape and mirrors the treatment of non-syndromic coronal craniosynostosis. [med.unc.edu]
Sensorineural hearing loss may be amenable to treatment with hearing aids or cochlear implants, depending on the severity. [craniofacialteamtexas.com]
Prevention
Crossed eyes should be corrected during early childhood to prevent lazy eye (amblyopia). In lazy eye, 1 eye does not develop normal vision. Your child may need to wear an eye patch. Some children may need eye surgery. [seattlechildrens.org]