Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28.


Objective: This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackson-Weiss syndrome.

Data sources: Pub-Med, Medline, Cochrane Database, Science Direct, NLM Catalog.

Review methods: A Medline search was conducted to find all reported cases of the 7 FGFR related syndromic craniosynostosis. Special attention was paid to literature that reported hearing findings and the audiology literature.

Results: Hearing loss occurs in variable percentage as a component part of all FGFR related craniosynostosis syndromes. Our literature review revealed the following incidences of hearing loss in FGFR craniosynostoses: 61% in Muenke syndrome, 80% in Apert Syndrome, 92% in Pfeiffer syndrome, 74% in Crouzon syndrome, 68% in Jackson Weiss syndrome, 4% in Beare Stevenson syndrome and 14% in Crouzon syndrome with Acanthosis Nigricans. The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.

Conclusion: This manuscript presents a diagnostic and management algorithm for patients with syndromic craniosynostosis. It will aid clinicians in treating these patients and further, the recognition of a possible syndrome in patients with hearing loss who also have syndromic features.

Keywords: Craniosynostosis; Hearing FGFR syndromes; Hearing loss craniosynostosis; Hearing loss syndromes; Syndromic craniosynostosis.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Acanthosis Nigricans / genetics
  • Acrocephalosyndactylia / genetics
  • Craniofacial Dysostosis / genetics*
  • Craniosynostoses / genetics*
  • Ear / abnormalities
  • Foot Deformities, Congenital / genetics
  • Hearing Loss, Conductive* / diagnosis
  • Hearing Loss, Conductive* / genetics
  • Hearing Loss, Sensorineural* / diagnosis
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Receptors, Fibroblast Growth Factor / genetics*
  • Scalp Dermatoses / genetics
  • Skin Abnormalities / genetics


  • Receptors, Fibroblast Growth Factor

Supplementary concepts

  • Cutis Gyrata Syndrome of Beare And Stevenson
  • Jackson-Weiss syndrome
  • Muenke Syndrome