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Diseases

Genetic and Rare Diseases Information Center (GARD)

Robinow syndrome


Other Names for this Disease
  • Robinow dwarfism
  • Fetal face syndrome
  • Acral dysostosis with facial and genital abnormalities
  • Covesdem syndrome (formerly)
  • Costovertebral segmentation defect with mesomelia (formerly)
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Overview

Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity.

Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene.[1]

Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene.[1]

In some cases, the underlying cause of Robinow syndrome is unknown.[1] Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.[2]

Last updated: 9/28/2015

References

  1. Robinow syndrome. Genetics Home Reference. September, 2015; http://ghr.nlm.nih.gov/condition/robinow-syndrome.
  2. Juliana MAZZEU. Robinow syndrome. Orphanet. May, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360.
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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. 
    Autosomal dominant Robinow syndrome-1 (DRS1)
    Autosomal recessive Robinow syndrome (RRS)
  • 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
  • Robinow dwarfism
  • Fetal face syndrome
  • Acral dysostosis with facial and genital abnormalities
  • Covesdem syndrome (formerly)
  • Costovertebral segmentation defect with mesomelia (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.