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Genetic and Rare Diseases Information Center (GARD)

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Orofaciodigital syndrome 2


Other Names for this Disease

  • Mohr syndrome
  • OFD syndrome 2
  • OFD2
  • OFDS 2
  • Oral facial digital syndrome 2
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Overview

Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient.[1]
Last updated: 6/23/2009

References

  1. Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics . 2007;
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Basic Information

  • 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

  • The 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 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mohr syndrome
  • OFD syndrome 2
  • OFD2
  • OFDS 2
  • Oral facial digital syndrome 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.