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Genetic and Rare Diseases Information Center (GARD)

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Robinow syndrome


Other Names for this Disease

  • Acral dysostosis with facial and genital abnormalities
  • Costovertebral segmentation defect with mesomelia (formerly)
  • Covesdem syndrome (formerly)
  • Fetal face syndrome
  • Robinow dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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; short stature; and distinctive facial features.  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. Mutations in the ROR2 gene cause autosomal recessive Robinow syndrome.

The signs and symptoms of autosomal dominant Robinow syndrome are similar, 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. The autosomal dominant form is less frequent and the genetic cause is unknown. [1]

Last updated: 2/11/2011

References

  1. Robinow syndrome. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition/robinow-syndrome. Accessed 2/1/2011.
Your Questions Answered
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Please contact us with your questions about Robinow syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Robinow syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Robinow syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acral dysostosis with facial and genital abnormalities
  • Costovertebral segmentation defect with mesomelia (formerly)
  • Covesdem syndrome (formerly)
  • Fetal face syndrome
  • Robinow dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.