What is Muenke syndrome?
Muenke syndrome is a rare genetic syndrome that leads to the premature closing of bones in the skull as an infant develops (craniosynostosis). This in turn leads to unique facial features affecting the head and face. As a syndrome,it accounts for around 4% of all the recorded cases of craniosynostosis.
This syndrome is also known as:
FGFR3 craniosynostosis; Muenke craniosynostosis; Muenke Nonsyndromic Coronal Craniosynostosis; Severe achondroplasia-developmental delay-acanthosis nigricans
What gene changes cause Muenke syndrome?
Changes in the FGFR3 gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal dominant pattern.
What are the main symptoms of Muenke syndrome?
Craniosynostosis (the premature closing of specific bones of the skull as the skull develops) is the main symptom of the syndrome. Generally in those affected by the syndrome, this premature closing occurs along the line over the head between each ear. This in turn leads to an abnormally shaped head as well as wide set eyes and flat cheekbones. In some cases, although very few, individuals may have a larger head.
Other symptoms associated with the syndrome vary between individuals in terms of their presentation and severity, and in some cases individuals may have limited or no symptoms. Some individuals experience mild anomalies affecting the hands or feet. Others experience hearing loss. Developmental and learning difficulties or delays are reported in some cases.
Possible clinical traits/features:
Autosomal dominant inheritance, Sensorineural hearing impairment, Plagiocephaly, High palate, Hydrocephalus, Short toe, Short middle phalanx of finger, Cognitive impairment, Global developmental delay, Hypertelorism, Low anterior hairline, Intellectual disability, Abnormality of body height, Increased intracranial pressure, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, Broad hallux, Abnormal palate morphology, Brachycephaly, Coronal craniosynostosis, Downslanted palpebral fissures, Malar flattening, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Clinodactyly, Proptosis, Ptosis, Midface retrusion, Short middle phalanx of toe, Macrocephaly, Synostosis of carpal bones, Tarsal synostosis, Radial deviation of finger
How is it diagnosed?
To find out if someone has a diagnosis of Muenke syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
