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Diseases

Genetic and Rare Diseases Information Center (GARD)

Orofaciodigital syndrome 4


Other Names for this Disease
  • OFD4
  • Orofaciodigital syndrome with tibial dysplasia
  • Baraitser-Burn syndrome
  • OFD syndrome with tibial defects
  • OFD syndrome 4
Related Diseases
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Overview

Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion.[2][3] The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).[3]
Last updated: 3/23/2013

References

  1. Oral-facial-digital syndrome. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 3/23/2013.
  2. Vazquez MP. Oral-facial-digital syndrome type 4. Orphanet. November 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2509. Accessed 3/23/2013.
  3. Orofaciodigital Syndrome IV. Online Mendelian Inheritance in Man (OMIM). September 2012; http://omim.org/entry/258860. Accessed 3/23/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Orofaciodigital syndrome 4. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Orofaciodigital syndrome 4. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OFD4
  • Orofaciodigital syndrome with tibial dysplasia
  • Baraitser-Burn syndrome
  • OFD syndrome with tibial defects
  • OFD syndrome 4
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.