FGFR3-associated coronal synostosis syndrome (Muenke syndrome)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

FGFR3-associated coronal synostosis syndrome (Muenke syndrome) is an autosomal dominant genetic condition. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include coronal craniosynostosis, facial asymmetry, and sensorineural hearing loss.

It can present with psychiatric features such as ADHD, behavioural difficulties, and, less commonly, anxiety or other emotional or behavioural problems. These difficulties may persist into adolescence and adulthood, although the syndrome is usually recognised earlier because of the distinctive manifestations mentioned above.

From a morphologic lens perspective, other features include (but are not limited to):

  • Midface retrusion

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Ptosis

  • Brachydactyly

  • Clinodactyly of fifth fingers

  • Broad thumbs and/or broad halluces

Other characteristic features include developmental delay or intellectual disability, strabismus and other ocular abnormalities, and neurological complications such as epilepsy. Intracranial abnormalities or hydrocephalus may also occur.

Early diagnosis is important to identify and manage craniosynostosis and its neurological and ophthalmological complications, detect hearing loss and developmental difficulties, and provide appropriate developmental, educational, behavioural, audiological, and neurological support.

 

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.