Crouzon Syndrome

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It is a genetic disorder also termed as craniosynostosis in which premature fusion of skull bones thus halting the normal growth of skull as well as affecting the shape of head and face 1 .


Other names for this syndrome

  • CFD1

  • craniofacial dysarthrosis

  • craniofacial dysostosis syndrome

  • craniofacial dysostosis type 1

  • Crouzon craniofacial dysostosis

  • Crouzon's disease

    Prevalence

    It is the most common cranio-synostosis with prevalence of about 1 in 16 per million newborns 2.

    Cause

    It is because of the mutation in FGFR2 gene 3 that encodes a protein known as the fibroblast growth factor receptor 2, which normally signals immature cells during embryonic development to become bone cells but due to a mutation in FGFR2 gene overactive signaling leads to premature fusion of the bone cells 4.

    Inheritance

    It is inherited in autosomal dominant pattern which means that a single copy of gene causes the disease 5.

    Symptoms

    The symptoms of crouzon syndrome includes;

    • Strabismus (crossed eyed)
    • Bulging eyes
    • Upper jaw underdeveloped
    • A beaked nose
    • Small cheeks
    • A skull that is either flat from the middle part of the face upwards or is tall.

  • Diagnosis

    Doctors usually diagnose it by either physical examination or by imaging tests such as x-rays or computed tomography (CT) as well as magnetic resonance imaging (MRI) to look for increased pressure in the skull due to fused sutures.

    Treatment

    The only treatment for such syndrome is surgery as fused sutures could cause intra-cranial pressure which would lead to brain injury 6.

    By ZOHA KHAN

     

    REFERENCES

    1.      Bowling, E. L. & Burstein, F. D. Crouzon syndrome. Optom. Am. Optom. Assoc. 77, 217–222 (2006).

    2.      Cohen Jr, M. M. & Krelborg, S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin. Genet. 41, 12–15 (1992).

    3.      Reardon, W. et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat. Genet. 8, 98–103 (1994).

    4.      Wilkie, A. O. M. et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat. Genet. 9, 165–172 (1995).

    5.      Murdoch‐Kinch, C. A., Bixler, D. & Ward, R. E. Cephalometric analysis of families with dominantly inherited Crouzon syndrome: An aid to diagnosis in family studies. Am. J. Med. Genet. 77, 405–411 (1998).

    6.      David, D. J. & Sheen, R. Surgical correction of Crouzon syndrome. Plast. Reconstr. Surg. 85, 344–354 (1990).


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