Further Outpatient Care

Carefully monitor postoperative complications.

Further Inpatient Care

Admit the patient with Crouzon syndrome for surgical intervention. Tracheostomy may be needed for airway management.

Transfer

Transfer may be indicated for further diagnostic evaluation and surgical intervention.

Complications

Complications can include the following:

Wound infections, frontal bone osteomyelitis, epidural abscess, and periorbital abscess
Increased intracranial pressure and postoperative hydrocephalus
Cerebrospinal fluid (CSF) leak
Respiratory distress and obstructive sleep apnea
Facial nerve palsy, blindness, diplopia, and velopharyngeal incompetence
Optic atrophy - Remains an important cause of visual impairment before decompressive craniectomy

Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet. 2011 Apr. 19 (4):369-76. [Medline]. [Full Text].
Ko JM. Genetic Syndromes Associated with Craniosynostosis. J Korean Neurosurg Soc. 2016 May. 59 (3):187-91. [Medline]. [Full Text].
Cohen MM Jr. Craniosynostosis update 1987. Am J Med Genet Suppl. 1988. 4:99-148. [Medline].
Cohen MM Jr, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet. 1992 Jan. 41(1):12-5. [Medline].
Reardon W, Winter RM, Rutland P. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994 Sep. 8(1):98-103. [Medline].
Ahmed I, Afzal A. Diagnosis and evaluation of Crouzon syndrome. J Coll Physicians Surg Pak. 2009 May. 19(5):318-20. [Medline].
Hlongwa P. Early orthodontic management of Crouzon Syndrome: a case report. J Maxillofac Oral Surg. 2009 Mar. 8 (1):74-6. [Medline]. [Full Text].
Roscioli T, Elakis G, Cox TC, et al. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet. 2013 Nov. 163C (4):259-70. [Medline].
Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res. 2007 May. 10 (2):67-81. [Medline].
Lu X, Forte AJ, Sawh-Martinez R, et al. Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome. Int J Oral Maxillofac Surg. 2018 Oct 30. [Medline].
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep. 14 (3):150-61. [Medline]. [Full Text].
Sharma VP, Wall SA, Lord H, Lester T, Wilkie AO. Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J. 2012 May. 49 (3):373-7. [Medline].
Golabi M. Radiographic abnormalities of Crouzon syndrome. Proc Greenwood Genetic Ctr. 1984. 3:102.
Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar. 66 (3):768-77. [Medline]. [Full Text].
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86 (1):84-8. [Medline].
Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A. [Chiari "malformation" in Crouzon syndrome]. Arch Pediatr. 1996 May. 3 (5):433-9. [Medline].
Aguado AM, Lobo-Rodriguez B, Blanco-Menendez R, Alvarez-Carriles JC, Vera de la Puente E. [Neuropsychological implications of Crouzon syndrome: a case report]. Rev Neurol. 1999 Dec 1-15. 29 (11):1040-4. [Medline].
Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. Am J Med Genet A. 2016 Jun. 170 (6):1532-7. [Medline].
Cohen MM Jr, Kreiborg S. A clinical study of the craniofacial features in Apert syndrome. Int J Oral Maxillofac Surg. 1996 Feb. 25 (1):45-53. [Medline].
Lopez-Rangel E, Van Allen MI. Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. Birth Defects Res A Clin Mol Teratol. 2005 Nov. 73 (11):919-23. [Medline].
Rutland P, Pulleyn LJ, Reardon W. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995 Feb. 9(2):173-6. [Medline].
Wilkie AO, Slaney SF, Oldridge M. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb. 9(2):165-72. [Medline].
M Das J, Bhimji SS. Pfeiffer Syndrome. 2018 Jan. [Medline]. [Full Text].
Gorlin RJ, Cohen MM Jr., Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. New York, NY: Oxford; 2001.
Kan SH, Elanko N, Johnson D, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet. 2002 Feb. 70 (2):472-86. [Medline]. [Full Text].
Lin Y, Gao H, Ai S, et al. FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. Mol Med Rep. 2017 Nov. 16 (5):5841-6. [Medline]. [Full Text].
Mangasarian K, Li Y, Mansukhani A, Basilico C. Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. J Cell Physiol. 1997 Jul. 172 (1):117-25. [Medline].
Britto JA, Evans RD, Hayward RD, Jones BM. From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes. Plast Reconstr Surg. 2001 Dec. 108 (7):2026-39; discussion 2040-6. [Medline].
Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. Proc Natl Acad Sci U S A. 1998 Apr 14. 95 (8):4567-72. [Medline]. [Full Text].
Di Rocco F, Collet C, Legeai-Mallet L, et al. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst. 2011 Mar. 27(3):349-54. [Medline].
Muenke M, Gripp KW, McDonald-McGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997 Mar. 60(3):555-64. [Medline].
Kreiborg S. Crouzon syndrome. a clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl. 1981. 18:1-198. [Medline].
Bagheri SC. Syndromes of the head and neck. Bagheri SC, ed. Clinical Review of Oral and Maxillofacial Surgery: A Case-Based Approach. 2nd ed. Maryland Heights, Mo: Mosby; 2014. 457-87.
Cohen MM Jr. Editorial: perspectives on craniosynostosis. Am J Med Genet A. 2005 Aug 1. 136A(4):313-26. [Medline].
Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974 Oct. 11:394-403. [Medline].
Renier D, Lajeunie E, Arnaud E, Marchac D. Management of craniosynostoses. Childs Nerv Syst. 2000 Nov. 16 (10-11):645-58. [Medline].
Shipster C, Hearst D, Somerville A, Stackhouse J, Hayward R, Wade A. Speech, language, and cognitive development in children with isolated sagittal synostosis. Dev Med Child Neurol. 2003 Jan. 45 (1):34-43. [Medline].
Magge SN, Westerveld M, Pruzinsky T, Persing JA. Long-term neuropsychological effects of sagittal craniosynostosis on child development. J Craniofac Surg. 2002 Jan. 13 (1):99-104. [Medline].
Robin NH, Falk MJ, Haldeman-Englert CR, et al. FGFR-Related Craniosynostosis Syndromes. GeneReviews. 1998 Oct 20; updated 2011 Jun 7. [Medline]. [Full Text].
Goriely A, Lord H, Lim J, et al. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. Am J Med Genet A. 2010 Aug. 152A(8):2067-73. [Medline].
Tay T, Martin F, Rowe N, Johnson K, Poole M, Tan K. Prevalence and causes of visual impairment in craniosynostotic syndromes. Clin Experiment Ophthalmol. 2006 Jul. 34(5):434-40. [Medline].
Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 2005 Jun. 112(6):1129-34. [Medline].
Taglialatela Scafati C, Aliberti F, Taglialatela Scafati S, Mangone GM, Taglialatela Scafati M. The value of the maxillo-malar osteotomy in the treatment of Crouzon syndrome with exorbitism. Ann Plast Surg. 2008 Sep. 61(3):285-9. [Medline].
Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014 Dec. 78(12):2037-47. [Medline].
Fenwick AL, Goos JA, Rankin J, et al. Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet. 2014 Aug 31. 15:95. [Medline]. [Full Text].
Mir A, Wu T, Orlow SJ. Cutaneous features of crouzon syndrome with acanthosis nigricans. JAMA Dermatol. 2013 Jun 1. 149(6):737-41. [Medline].
Suh YJ, Bae HS, Choi JY, et al. A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. J Cell Biochem. 2014 Jan. 115 (1):102-10. [Medline].

Media Gallery

Child with Crouzon syndrome. Note midfacial hypoplasia, proptosis secondary to shallow orbits, and ocular hypertelorism.

of 1

Table 1. Skeletal features that help to distinguish craniosynostosis syndromes*

Disorder	Thumbs	Hands	Great Toes	Feet	Targets for genetic testing
Crouzon syndrome	Normal	Normal	Normal	Normal	FGFR2
Crouzon syndrome with acanthosis nigricans	Normal	Normal	Normal	Normal	FGFR3
Apert syndrome	Fusion of thumb to fingers is occasionally seen	Soft tissue with or without bone syndactyly	Fusion of great toe to other toes is occasionally seen	Soft tissue with or without bone syndactyly	FGFR2
Pfeiffer syndrome	Broad, medially deviated	Variable brachydactyly	Broad, medially deviated	Variable brachydactyly	FGFR1, FGFR2
Muenke syndrome	Normal	With or without carpal fusion	May or may not be broad	Tarsal fusion may or may not be present	FGFR3
Jackson-Weiss syndrome	Normal	Variable	Broad, medially deviated	Abnormal tarsals	FGFR2
Beare-Stevenson syndrome	Normal	Normal	Normal	Normal	FGFR2

Table 2. Efficiency (mutation detection rate) of molecular testing*

Syndrome	Gene	Mutation Detection Rate
Pfeiffer	FGFR1,FGFR2	67%
Apert	FGFR2	>98%
Crouzon	FGFR2	>50%
Crouzonodermoskeletal	FGFR3	100%
Muenke	FGFR3	100%
Saethre-Chotzen	TWIST1	46-80%

Back to List

Author

Marie M Tolarova, MD, PhD, DSc Professor and Executive Director Pacific Craniofacial Team and Cleft Prevention Program, University of the Pacific, Dugoni School of Dentistry

Marie M Tolarova, MD, PhD, DSc is a member of the following medical societies: American Cleft Palate-Craniofacial Association, International Association for Dental Research, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Genetics of Crouzon Syndrome Follow-up

Further Outpatient Care

Further Inpatient Care

Transfer

Complications

References

Tables

Contributor Information and Disclosures

What would you like to print?