Skip to main content
SpringerLink
Log in

Robinow Syndrome

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

  • 326 Accesses

Abstract

In 1969, Robinow et al. (1969) described a new dwarfing syndrome characterized by mesomelic shortening of extremities, hemivertebrae, genital hypoplasia, and “fetal facies” (Wadlington et al. 1973). The incidence is estimated to be approximately 1 in 500,000.

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

  • Aglan, M., Amr, K., Ismail, S., et al. (2015). Clinical and molecular characterization of seven Egyptian families with autosomal recessive Robinow syndrome: Identification of four novel ROR2 gene mutations. American Journal of Medical Genetics Part A, 167A, 3054–3061.

    Google Scholar 

  • Afzal, A. R., & Jeffery, S. (2003). One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Human Mutation, 22, 1–11.

    Article  CAS  PubMed  Google Scholar 

  • Afzal, A. R., Rajab, A., Fenske, C., et al. (2000a). Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Human Genetics, 106, 351–354.

    Article  CAS  PubMed  Google Scholar 

  • Afzal, A. R., Rajab, A., Fenske, C., et al. (2000b). Autosomal recessive Robinow syndrome is allelic to dominant brachydactyly type B and caused by loss of function mutations in ROR2. Nature Genetics, 25, 419–422.

    Article  CAS  PubMed  Google Scholar 

  • Al-Ata, J., Paquet, M., & Teebi, A. S. (1998). Congenital heart disease in Robinow syndrome. American Journal of Medical Genetics, 77, 332–333.

    Article  CAS  PubMed  Google Scholar 

  • Altunkas, A., Sarikaya, B., Aktas, F., et al. (2016). Vertebral anomalies accompanying Robinow syndrome. Spine Journal, 16, e341–e342.

    Google Scholar 

  • Atalay, S., Ege, B., Imamoglu, A., et al. (1993). Congenital heart disease and Robinow syndrome. Clinical Dysmorphology, 2, 208–210.

    Article  CAS  PubMed  Google Scholar 

  • Bacino, C. (2011). ROR2-related Robinow syndrome. GeneReviews. Updated August 25, 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1240/

  • Bain, M. D., Winter, R. M., & Burn, J. (1986). Robinow syndrome without mesomelic “brachymelia”: A report of five cases. Journal of Medical Genetics, 23, 350–354.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Beiraghi, S., Leon-Salazar, V., Larson, B. E., et al. (2011). Craniofacial and intraoral phenotype of Robinow syndrome forms. Clinical Genetics, 80, 15–24.

    Article  CAS  PubMed  Google Scholar 

  • Bunn, K. J., Lai, A., Al-Ani, A., et al. (2014). An osteosclerotic form of Robinow syndrome. American Journal of Medical Genetics. Part A, 164A, 2638–2642.

    Article  PubMed  Google Scholar 

  • Bunn, K. J., Daniel, P., Rösken, H. S., et al. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96, 623–630.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Butler, M. G., & Wadlington, W. B. (1987). Robinow syndrome: Report of two patients and review of literature. Clinical Genetics, 31, 77–85.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Castells, S., Chakurkar, A., Qazi, Q., et al. (1999). Robinow syndrome with growth hormone deficiency: Treatment with growth hormone. Journal of Pediatric Endocrinology & Metabolism, 12, 565–571.

    Article  CAS  Google Scholar 

  • Castro, S., Peraza, E., Barraza, A., et al. (2014). Prenatal diagnosis of Robinow syndrome: A case report. Clinical Ultrasound, 42, 297–300.

    Article  PubMed  Google Scholar 

  • Giedion, A., Battaglia, G. F., Bellini, F., et al. (1976). The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases. Helvetica Paediatrica Acta, 30, 409–423.

    CAS  PubMed  Google Scholar 

  • Kanatupra, P. N., Gorlin, R. J., Ukarapol, N., et al. (1999). Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type. American Journal of Medical Genetics, 84, 1–7.

    Article  Google Scholar 

  • Kawai, M., Yorifuji, T., Yamanaka, C., et al. (1997). A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone. Hormone Research, 48, 41–43.

    Article  CAS  PubMed  Google Scholar 

  • Lee, P. A., Migeon, C. J., Brown, T. R., et al. (1982). Robinow’s syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis. American Journal of Disease Children, 136, 327–330.

    Article  CAS  Google Scholar 

  • Loverro, G., Guanti, G., Caruso, G., et al. (1990). Robinow’s syndrome. Prenatal diagnosis. Prenatal Diagnosis, 10, 121–126.

    Article  CAS  PubMed  Google Scholar 

  • Mazzeu, J. F., Pardono, E., Vianna-Morgante, A. M., et al. (2007). Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics. Part A, 143A, 320–325.

    Article  Google Scholar 

  • Patton, M. A., & Afzal, A. R. (2002). Robinow syndrome. Journal of Medical Genetics, 39, 305–310.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Percin, E. F., Guvenal, T., Cetin, A., et al. (2001). First-trimester diagnosis of Robinow syndrome. Fetal Diagnosis and Therapy, 16, 308–311.

    Article  CAS  PubMed  Google Scholar 

  • Person, A. D., Beiraghi, S., Sieben, C. M., et al. (2010). WNT5A mutations in patients with autosomal dominant Robinow syndrome. Developmental Dynamics, 239, 327–337.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Robinow, M. (1993). The Robinow (fetal face) syndrome: A continuing puzzle. Clinical Dysmorphology, 2, 189–198.

    Article  CAS  PubMed  Google Scholar 

  • Robinow, M., Silverman, F. N., & Smith, H. D. (1969). A newly recognized dwarfing syndrome. American Journal of Diseases of Children, 117, 645–651.

    CAS  PubMed  Google Scholar 

  • Roifman, M., Brunner, H., Lohr, J., et al. (2015). Autosomal dominant Robinow syndrome. Updated January 8, 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK268648/

  • Schorderet, D. F., Dahoun, S., Defrance, I., et al. (1992). Robinow syndrome in two siblings from consanguineous parents. European Journal of Pediatrics, 151, 586–589.

    Article  CAS  PubMed  Google Scholar 

  • Soliman, A. T., Rajab, A., Alsalmi, I., et al. (1998). Recessive Robinow syndrome: With emphasis on endocrine functions. Metabolism, 47, 1337–1343.

    Article  CAS  PubMed  Google Scholar 

  • Soman, C., & Lingappa, A. (2015). Robinow syndrome: A rare case report and review of literature. International Journal of Clinical Pediatric Dentistry, 8, 149–152.

    Article  PubMed  PubMed Central  Google Scholar 

  • Teebi, A. S. (1990). Autosomal recessive Robinow syndrome. American Journal of Medical Genetics, 35, 64–68.

    Article  CAS  PubMed  Google Scholar 

  • Tufan, F., Cefle, K., Tūrkmen, S., et al. (2005). Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. American Journal of Medical Genetics, 136A, 185–189.

    Article  Google Scholar 

  • van Bokhoven, H., Celli, J., Kayserili, H., et al. (2000). Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics, 25, 423–426. Erratum in Nat Genet 26:383, 2000.

    Article  PubMed  Google Scholar 

  • Wadlington, W. B., Tucker, V. L., & Schimke, R. N. (1973). Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). American Journal of Diseases of Children, 126, 202–205.

    CAS  PubMed  Google Scholar 

  • Webber, S. A., Wargowski, D. S., Chitayat, D., et al. (1990). Congenital heart disease and Robinow syndrome: Coincidence or an additional component of the syndrome? American Journal of Medical Genetics, 37, 519–521.

    Article  CAS  PubMed  Google Scholar 

  • White, J. J., Mazzeu, J. F., Hoischen, A., et al. (2016). DVL3 alleles resulting in a −1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome. American Journal of Human Genetics, 98, 553–561.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wiens, L., Strickland, D. K., Sniffen, B., et al. (1990). Robinow syndrome: Report of two patients with cystic kidney disease. Clinical Genetics, 37, 481–484.

    Article  CAS  PubMed  Google Scholar 

  • Xiong, S., Chitayat, D., Wei, X., et al. (2016). A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clinical Dysmorphology, 25, 186–189.

    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). Robinow Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_206

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_206

  • 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