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Genetics Home Reference: your guide to understanding genetic conditions
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Robinow syndrome

Reviewed March 2008

What is Robinow syndrome?

Robinow syndrome is a rare disorder of skeletal development that affects many parts of the body. Researchers have identified two types of Robinow syndrome, which are distinguished by the severity of their signs and symptoms and by their patterns of inheritance.

Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, and a wide nasal bridge. Other common features of this disorder include underdeveloped genitalia and dental problems (such as crowded teeth and overgrowth of the gums). Kidney and heart defects are also possible. Delayed development occurs in 10 percent to 15 percent of people with this condition, although intelligence is usually normal.

The signs and symptoms of autosomal dominant Robinow syndrome are similar to, but tend to be milder than, those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form.

How common is Robinow syndrome?

Robinow syndrome is rare, with fewer than 200 affected people reported worldwide. The autosomal recessive form of this condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and Brazil.

What genes are related to Robinow syndrome?

Mutations in the ROR2 gene cause autosomal recessive Robinow syndrome. This gene provides instructions for making a protein whose function is not well understood, although it is essential for normal development before birth. In particular, the ROR2 protein appears to play a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts embryonic development and leads to the characteristic features of Robinow syndrome.

The genetic cause of autosomal dominant Robinow syndrome is unknown. Abnormalities involving chromosome 1 have been reported in two people with the features of this condition. Further studies will help determine whether a gene associated with autosomal dominant Robinow syndrome is located on chromosome 1. Researchers suspect that mutations in a gene that works with the ROR2 gene during early development may underlie this form of the disorder.

Related Gene(s)

Changes in this gene are associated with Robinow syndrome.

  • ROR2

How do people inherit Robinow syndrome?

In some families, Robinow syndrome has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

In other families, Robinow syndrome has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Robinow syndrome?

These resources address the diagnosis or management of Robinow syndrome and may include treatment providers.

  • Gene Review: Autosomal Dominant Robinow Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK268648)
  • Gene Review: ROR2-Related Robinow Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1240)
  • Genetic Testing Registry: Robinow syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0265205)
  • University of Chicago: Genetic Testing for Robinow Syndrome (http://dnatesting.uchicago.edu/taxonomy/term/122/all)

You might also find information on the diagnosis or management of Robinow syndrome in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Robinow syndrome?

You may find the following resources about Robinow syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Robinow syndrome?

  • Acral dysostosis with facial and genital abnormalities
  • Fetal face syndrome
  • mesomelic dwarfism-small genitalia syndrome
  • Robinow dwarfism
  • Robinow-Silverman-Smith syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Robinow syndrome?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding Robinow syndrome?

acral ; autosomal ; autosomal dominant ; autosomal recessive ; brachydactyly ; cell ; chromosome ; dwarfism ; embryonic ; gene ; genitalia ; genitals ; gums ; inheritance ; inheritance pattern ; kidney ; kyphoscoliosis ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000 Aug;25(4):419-22. (http://www.ncbi.nlm.nih.gov/pubmed/10932186?dopt=Abstract)
  • Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26. (http://www.ncbi.nlm.nih.gov/pubmed/25817014?dopt=Abstract)
  • Bunn KJ, Lai A, Al-Ani A, Farella M, Craw S, Robertson SP. An osteosclerotic form of Robinow syndrome. Am J Med Genet A. 2014 Oct;164A(10):2638-42. doi: 10.1002/ajmg.a.36677. Epub 2014 Jul 14. (http://www.ncbi.nlm.nih.gov/pubmed/25045061?dopt=Abstract)
  • Gene Review: Autosomal Dominant Robinow Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK268648)
  • Gene Review: ROR2-Related Robinow Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1240)
  • Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007 Feb 15;143(4):320-5. (http://www.ncbi.nlm.nih.gov/pubmed/17256787?dopt=Abstract)
  • Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156. (http://www.ncbi.nlm.nih.gov/pubmed/19918918?dopt=Abstract)
  • Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2015 Jan;87(1):34-41. doi: 10.1111/cge.12401. Epub 2014 May 24. (http://www.ncbi.nlm.nih.gov/pubmed/24716670?dopt=Abstract)
  • White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. (http://www.ncbi.nlm.nih.gov/pubmed/25817016?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2008
Published: August 24, 2015