Crouzon Syndrome 

  • Author: Lukasz Matusiak, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: May 10, 2012
 

Background

Crouzon syndrome was described in 1912 as one of the varieties of craniofacial dysostosis caused by premature obliteration and ossification of two or more sutures, most often coronal and sagittal.[1, 2, 3, 4] Virchow introduced the term craniostenosis.[5] The type of obliterated sutures determines the type of craniostenosis. Oxycephaly, scaphocephaly, wedge skull, and oblique head are differentiated.[1, 3, 4, 5] Crouzon syndrome with oxycephaly and Apert syndrome with oxycephaly and syndactylia (acrocephalosyndactyly) are the most common cases of dysostosis. Some authors connect those syndromes as one, calling it Crouzon-Apert syndrome, but symptomatologic differentiation makes classification difficult. Acanthosis nigricans (shown in the image below) is the main dermatologic manifestation of Crouzon syndrome (see Acanthosis Nigricans).[3, 4, 6]

Acanthosis nigricans of the axillary fossa in CrouAcanthosis nigricans of the axillary fossa in Crouzon syndrome.
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Pathophysiology

Dysplasias of the skeleton (including craniofacial dysostosis) are caused by the malformations of the mesenchyme and ectoderm. The unknown teratogenic factors are taken into account. Dysplasias are inherited in an autosomal dominant pattern. Mutation of the gene (locus 10q26) for fibroblast growth factor receptor 2 (FGFR2) could be responsible for Crouzon syndrome. Moreover, the mutation in the transmembrane region of FGFR3 (locus 4p16.3) was detected in this syndrome and was observed in cases with acanthosis nigricans coexistence.[2, 7, 8, 9, 10, 11, 12]

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Epidemiology

Frequency

International

The prevalence is very low; Crouzon syndrome is currently estimated to occur in 1 in 25,000 people in the general population.[4] Crouzon syndrome is rare worldwide.[3, 4]

Mortality/Morbidity

High intracranial pressure caused by disproportion between craniostenosis and brain growing may lead to death.[1, 3, 5]

Race

Race is not noted as a predisposing factor.[3]

Sex

Sex factor does not play any role.[3]

Age

Deformation of bony face is visible just after the birth. Other syndrome factors reveal themselves with time.[3, 5]

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Contributor Information and Disclosures
Author

Lukasz Matusiak, MD  Assistant, Department and Clinic of Dermatology, Venereology and Allergology, Medical University of Wroclaw

Disclosure: Nothing to disclose.

Coauthor(s)

Grazyna Szybejko-Machaj, MD, PhD  Assistant Professor, Department of Dermatology, Wroclaw Medical University

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Mieczyslawa Miklaszewska, MD, to the development and writing of this article.

References

  1. Ignatowicz R, Gdakowicz B. [Craniofacial dysostosis of the Crouzon type]. Wiad Lek. Feb 15 1971;24(4):363-6. [Medline].

  2. Maeda T, Hatakenaka M, Muta H, Nakayama M, Nakazaki Y, Hiroyama T, et al. Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). Intern Med. May 2004;43(5):432-5. [Medline].

  3. Miklaszewska M. Dysostosis cranio-facialis hederitaria. In: Miklaszewska M, Wasik F, eds. Dermatologia Pediatryczna. Vol 2. Wrocaw, Poland: Volumed; 2000:650-4.

  4. Miklaszewska M, Racawska A, Ziarkiewicz M. Syndroma Crouzon and syndromal acanthosis nigricans. Demonstration of case on the meeting of Polish Dermatological Society; February 1990.

  5. Posnick JC, Ruiz RL. The craniofacial dysostosis syndromes: current surgical thinking and future directions. Cleft Palate Craniofac J. Sep 2000;37(5):433. [Medline].

  6. Gines E, Rodriguez-Pichardo A, Jorquera E, Moreno JC, Camacho F. Crouzon disease with acanthosis nigricans and melanocytic nevi. Pediatr Dermatol. Jan-Feb 1996;13(1):18-21. [Medline].

  7. Bodo M, Baroni T, Carinci F, Becchetti E, Conte C, Bellucci C, et al. Interleukin secretion, proteoglycan and procollagen alpha(1)(I) gene expression in Crouzon fibroblasts treated with basic fibroblast growth factor. Cytokine. Aug 2000;12(8):1280-3. [Medline].

  8. Eswarakumar VP, Horowitz MC, Locklin R, Morriss-Kay GM, Lonai P. A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci U S A. Aug 24 2004;101(34):12555-60. [Medline].

  9. Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91(1-4):134-7. [Medline].

  10. Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, et al. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet. Sep 1996;33(9):744-8. [Medline].

  11. Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, et al. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. Jan 1 2001;98(1):75-91. [Medline].

  12. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. Dec 1995;11(4):462-4. [Medline]. [Full Text].

  13. Cohen MM Jr. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet. May 7 1999;84(1):74. [Medline].

  14. Ernyei S. Craniofacial dysplasia associated with congenital cataract, impairment of hearing and brachydactyly. Am J Ophthalmol. Oct 1966;62(4):697-702. [Medline].

  15. Kowalski M, Paszkowska M, Bryjanowska L. [A case of Crouzon's syndrome with coexistance of other congenital anomalies (author's transl)]. Klin Oczna. Oct 1977;47(10):445-7. [Medline].

  16. Meling TR, Høgevold HE, Due-Tønnessen BJ, Skjelbred P. Comparison of perioperative morbidity after LeFort III and monobloc distraction osteogenesis. Br J Oral Maxillofac Surg. Mar 10 2010;[Medline].

  17. Opitz C, Ring P, Stoll C. Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis. J Orofac Orthop. Mar 2004;65(2):150-63. [Medline].

  18. Scolozzi P, Herzog G, Jaques B. Simultaneous maxillo-mandibular distraction osteogenesis in hemifacial microsomia: a new technique using two distractors. Plast Reconstr Surg. Apr 15 2006;117(5):1530-41; discussion 1542. [Medline].

  19. Tessier P. The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzon's and Apert's diseases. Plast Reconstr Surg. Nov 1971;48(5):419-42. [Medline].

  20. Kobayashi S, Nishiouri T, Maegawa J, Hirakawa T, Fukawa T. A novel craniofacial osteogenesis distraction system enabling control of distraction distance and vector for the treatment of syndromic craniosynostosis. J Craniofac Surg. Mar 2012;23(2):422-5. [Medline].

  21. Ko EW, Chen PK, Tai IC, Huang CS. Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth. Int J Oral Maxillofac Surg. Jan 2012;41(1):20-7. [Medline].

  22. Nakajima H, Sakamoto Y, Tamada I, Ohara H, Kishi K. An internal distraction device for Le Fort distraction osteogenesis: the NAVID system. J Plast Reconstr Aesthet Surg. Jan 2012;65(1):61-7. [Medline].

  23. Kuroda S, Watanabe K, Ishimoto K, Nakanishi H, Moriyama K, Tanaka E. Long-term stability of LeFort III distraction osteogenesis with a rigid external distraction device in a patient with Crouzon syndrome. Am J Orthod Dentofacial Orthop. Oct 2011;140(4):550-61. [Medline].

  24. Bemmels H, Biesecker B, Loewenstein J, Krokosky A, Guidotti R, Sutton EJ. Psychological and Social Factors in Undergoing Reconstructive Surgery Among Individuals with Craniofacial Conditions: An Exploratory Study. Cleft Palate Craniofac J. Feb 8 2012;[Medline].

 
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Acrocephaly, beaked nose, "frog face," and pseudoprognathism of Crouzon syndrome.
Malposed teeth and acanthosis nigricans around the mouth in Crouzon syndrome.
No physiological spinal curvature is observed in Crouzon syndrome.
Acanthosis nigricans of the axillary fossa in Crouzon syndrome.
Short stature and dark skin of Crouzon syndrome.
 
 
 
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