Skip to main content
SpringerLink
Log in

Stickler Syndrome

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 328 Accesses

Abstract

In 1965, Stickler et al. (1965) described a family with progressive myopia, retinal detachment and blindness, and premature degenerative changes in various joints. The disorder was subsequently termed “hereditary arthroophthalmopathy” (Herrmann et al. 1975a, b) or “hereditary progressive arhroophthalmopathy” (Popkin and Polomeno 1974). The incidence is estimated to be about 1 in 10,000 (Admiraal et al. 2002).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Acke, F. R. E., Dhooge, I. J. M., Malfait, F., et al. (2012). Hearing impairment in Stickler syndrome: A systematic review. Orphanet Journal of Rare Diseases, 7, 1–10.

    Article  Google Scholar 

  • Acke, F. R., Malfait, F., Vanakker, O. M., et al. (2014). Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. Molecular Genetics and Metabolism, 113, 230–235.

    Article  CAS  PubMed  Google Scholar 

  • Acke, F. R., Swinnen, F. K., Malfait, F., et al. (2016). Auditory phenotype in Stickler syndrome: Results of audiometric analysis in 20 patients. European Archives of Oto-Rhino-Laryngology, 273(10), 3025–3034.

    Article  PubMed  Google Scholar 

  • Admiraal, R. J., Szymko, Y. M., Griffith, A. J., et al. (2002). Hearing impairment in Stickler syndrome. Advances in Oto-Rhino-Laryngology, 61, 216–223.

    Article  CAS  PubMed  Google Scholar 

  • Alshahrani, S., Ghazi, B. N. G., & Al-Rashaed, S. (2015). Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. Clinical Ophthalmology, 10, 1–6.

    PubMed  PubMed Central  Google Scholar 

  • Alzahrani, F., Al Hazzaa, S. A., Tayeb, H., et al. (2015). LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. Human Genetics, 134, 451–453.

    Article  CAS  PubMed  Google Scholar 

  • Annunen, S., Korkko, J., Czarny, M., et al. (1999). Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. American Journal of Human Genetics, 65, 974–983.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Antunes, R. B., Alonso, N., & Paula, R. G. (2012). Importance of early diagnosis of Stickler syndrome in newborns. Journal of Plastic, Reconstructive & Aesthetic Surgery, 65, 1029–1034.

    Article  Google Scholar 

  • Bennett, J. T., & McMurray, S. W. (1990). Stickler syndrome. Journal of Pediatric Orthopaedics, 10, 760–763.

    Article  CAS  PubMed  Google Scholar 

  • Blair, N. P., Albert, D. M., Liberfarb, R. M., et al. (1979). Hereditary progressive arthro-ophthalmopathy of Stickler. American Journal of Ophthalmology, 88, 876–888.

    Article  CAS  PubMed  Google Scholar 

  • Bowling, E. L., Brown, M. D., & Trundle, T. V. (2000). The Stickler syndrome: Case reports and literature review. Optometry, 71, 177–182.

    CAS  PubMed  Google Scholar 

  • Brown, D. M., Kimura, A. E., Weingeist, T. A., et al. (1994). Erosive vitreoretinopathy. A new clinical entity. Ophthalmology, 101, 694–704.

    Article  CAS  PubMed  Google Scholar 

  • Brown, D. M., Graemiger, R. A., Hergersberg, M., et al. (1995). Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q113-14. Archives of Ophthalmology, 113, 671–675.

    Article  CAS  PubMed  Google Scholar 

  • Brunner, H. G., van Beersum, S. E., Warman, M. L., et al. (1994). A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics, 3, 1561–1564.

    Article  CAS  PubMed  Google Scholar 

  • Dhaon, P., Das, S., & Nolkha, N. (2015). Arthritis in Stickler syndrome: Inflammatory or degenerative? International Journal of Rheumatic Diseases, 2015, 1–3.

    Google Scholar 

  • Dupont, C., Baumann, C., Le Du, N., et al. (2013). COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. American Journal of Medical Genetics. Part A, 161A, 2663–2665.

    PubMed  Google Scholar 

  • Faber, J., Winterpacht, A., Zabel, B., et al. (2000). Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: Implications for genetic counselling. Journal of Medical Genetics, 37, 318–320.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Faletra, F., D’Adamo, A. P., Bruno, I., et al. (2014). Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. American Journal of Medical Genetics. Part A, 164A, 42–47.

    Article  PubMed  Google Scholar 

  • Freddi, S., Savarirayan, R., & Bateman, J. F. (2000). Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. American Journal of Medical Genetics, 90, 398–406.

    Article  CAS  PubMed  Google Scholar 

  • Griffith, A. J., Sprunger, K. L., Siko-Osadsa, D. A., et al. (1998). Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics, 62, 816–823.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hall, J. (1974). Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. Birth Defects Original Article Series, 10, 157–171.

    CAS  PubMed  Google Scholar 

  • Herrmann, J., France, T. D., Spranger, J. W., et al. (1975a). The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Original Article Series, 11(2), 76–103.

    CAS  PubMed  Google Scholar 

  • Herrmann, J., France, T. D., & Opitz, J. M. (1975b). The Stickler syndrome. Birth Defects Original Article Series, 11, 203–204.

    CAS  PubMed  Google Scholar 

  • Hoornaert, K. P., Vereecke, I., Dewinter, C., et al. (2010). Stickler syndrome caused by COL2A1 mutations: Genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics, 18, 872–881.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Iwasa, Y.-i., Moteki, H., Hattori, M., et al. (2015). Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients. Annals of Otology, Rhinology & Laryngology, 2015, 1–7.

    Google Scholar 

  • Jacobson, J., Jacobson, C., & Gibson, W. (1990). Hearing loss in Stickler’s syndrome: A family case study. Journal of the American Academy of Audiology, 1, 37–40.

    CAS  PubMed  Google Scholar 

  • Kaissi, A. A., Chehida, F. B., Ganger, R., et al. (2013). Radiographic and tomographic analysis in patients with Stickler syndrome type I. International Journal of Medical Sciences, 10, 1250–1258.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kondo, H., Matsushita, I., Nagata, T., et al. (2016). Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. Human Genome Variation, 3, 1–4.

    Article  Google Scholar 

  • Leiba, H., Oliver, M., & Pollack, A. (1996). Prophylactic laser photocoagulation in Stickler syndrome. Eye, 10(Pt 6), 701–708.

    Article  PubMed  Google Scholar 

  • Lewkonia, R. M. (1992). The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). Journal of Rheumatology, 19, 1271–1275.

    CAS  PubMed  Google Scholar 

  • Li, K., & Thorne, C. (2010). Adult presentation of Stickler syndrome type III. Clinical Rheumatology, 29, 795–797.

    Article  PubMed  Google Scholar 

  • Liberfarb, R. M., & Goldblatt, A. (1986). Prevalence of mitral-valve prolapse in the Stickler syndrome. American Journal of Medical Genetics, 24, 387–392.

    Article  CAS  PubMed  Google Scholar 

  • Liberfarb, R. M., Hirose, T., & Holmes, L. B. (1981). The Wagner-Stickler syndrome: A study of 22 families. Journal of Pediatrics, 99, 394–399.

    Article  CAS  PubMed  Google Scholar 

  • Liberfarb, R. M., Levy, H. P., Rose, P. S., et al. (2003). The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in Medicine, 5, 21–27.

    Article  CAS  PubMed  Google Scholar 

  • Lisi, V., Guala, A., Lopez, A., et al. (2002). Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Genetic Counseling, 13, 163–170.

    CAS  PubMed  Google Scholar 

  • Marjava, M., Hoornaert, K. P., Bartholdi, D., et al. (2007). A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics, 143A, 258–264.

    Article  Google Scholar 

  • Marshall, D. (1958). Ectodermal dysplasia. Report of a kindred with ocular deformities and hearing defect. American Journal of Ophthalmology, 45, 143–156.

    Article  CAS  PubMed  Google Scholar 

  • McGuirt, W. T., Prasad, S. D., Griffith, A. J., et al. (1999). Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genetics, 23, 413–419.

    Article  CAS  PubMed  Google Scholar 

  • Mingo, K. M., Sidman, J. D., Sampson, D. E., et al. (2016). Use of external distractors and the role of imaging prior to mandibular distraction in infants with isolated Pierre Robin sequence and Stickler syndrome. JAMA Facial Plastic Surgery, 18, 95–100.

    Article  PubMed  Google Scholar 

  • Nowak, C. B. (1998). Genetics and hearing loss: A review of Stickler syndrome. Journal of Communication Disorders, 31(437–453), 453–454.

    Google Scholar 

  • Popkin, J. S., & Polomeno, R. C. (1974). Stickler’s syndrome (hereditary progressive arthro-ophthalmopathy). Canadian Medical Association Journal, 111, 1071–1076.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Richards, A. J., Yates, J. R., Williams, R., et al. (1996). A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Human Molecular Genetics, 5, 1339–1343.

    Article  CAS  PubMed  Google Scholar 

  • Richards, A. J., Baguley, D. M., Yates, J. R., et al. (2000). Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. American Journal of Human Genetics, 67, 1083–1094.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Richards, A. J., McNinch, A., Martin, H., et al. (2010). Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1. Human Mutation, 31, E1461–E1471.

    Article  CAS  PubMed  Google Scholar 

  • Richards, A. J., Fincham, G. S., McNinch, A., et al. (2013). Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. Journal of Medical Genetics, 50, 765–771.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Robin, N. H., Moran, R. T., Warman, M., et al. (2014). Stickler syndrome. GeneReviews. Updated November 26, 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1302/

  • Savasta, S., Salpietro, V., Spartà, M. V., et al. (2015). Stickler syndrome associated with epilepsy: Report of three cases. European Journal of Pediatrics, 174, 697–701.

    Article  PubMed  Google Scholar 

  • Shenoy, B. H., & Mandal, A. K. (2013). Stickler syndrome associated with congenital glaucoma. Lancet, 381, 422.

    Article  PubMed  Google Scholar 

  • Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., et al. (1998). Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. Journal of Pediatrics, 132, 368–371.

    Article  CAS  PubMed  Google Scholar 

  • Snead, M. P. (1996). Hereditary vitreopathy. Eye, 10, 653–663.

    Article  PubMed  Google Scholar 

  • Snead, M. P., & Yates, J. R. (1999). Clinical and molecular genetics of Stickler syndrome. Journal of Medical Genetics, 36, 353–359.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Soulier, M., Sigaudy, S., Chau, C., et al. (2002). Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome. Prenatal Diagnosis, 22, 567–568.

    Article  PubMed  Google Scholar 

  • Spallone, A. (1987). Stickler’s syndrome: A study of 12 families. British Journal of Ophthalmology, 71, 504–509.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Spranger, J. (1998). The type XI collagenopathies. Pediatric Radiology, 28, 745–750.

    Article  CAS  PubMed  Google Scholar 

  • Stevenson, D. A., Vanzo, R., Damjanovich, K., et al. (2012). Mosaicism in Stickler syndrome. European Journal of Medical Genetics, 55, 418–422.

    Article  PubMed  PubMed Central  Google Scholar 

  • Stickler, G. B., Belau, P. G., Farrell, F. J., et al. (1965). Hereditary progressive arthro-ophthalmopathy. Mayo Clinic Proceedings, 40, 433–455.

    CAS  PubMed  Google Scholar 

  • Stickler, G. B., Hughes, W., & Houchin, P. (2001). Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine, 3, 192–196.

    Article  CAS  PubMed  Google Scholar 

  • Van Camp, G., Snoeckx, R. L., Hilgert, N., et al. (2006). A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. American Journal of Human Genetics, 79, 449–457.

    Article  PubMed  PubMed Central  Google Scholar 

  • Van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., et al. (1997). Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. American Journal of Medical Genetics, 70, 315–323.

    Article  PubMed  Google Scholar 

  • Vikkula, M., Mariman, E. C. M., Lui, V. C. H., et al. (1995). Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell, 80, 431–437.

    Article  CAS  PubMed  Google Scholar 

  • Vilaplana, F., Muinos, S. J., Nadal, J., et al. (2015). Stickler syndrome. Epidemiology of retinal detachment. Achivos de la Sociedad Espanola de Oftalmologia, 90, 264–268.

    Article  CAS  Google Scholar 

  • Wang, X., Jia, X., Xiao, X., et al. (2016). Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular Vision, 22, 697–704.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Wilkin, D. J., Liberfarb, R., Davis, J., et al. (2000). Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons. American Journal of Medical Genetics, 94, 141–148.

    Article  CAS  PubMed  Google Scholar 

  • Wilkin, D. J., Liberfarb, R. M., & Francomano, C. A. (2001). Stickler syndrome. In S. B. Cassidy & J. E. Allanson (Eds.), Management of genetic syndromes (pp. 405–416). New York: Wiley-Blackwell.

    Google Scholar 

  • Zlotogora, J., Sagi, M., Schuper, A., et al. (1992). Variability of Stickler syndrome. American Journal of Medical Genetics, 42, 337–339.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Stickler Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_223

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_223

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation