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Orofaciodigital syndrome 1


Other Names for this Disease

  • OFD syndrome 1
  • OFD1
  • OFDS 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
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Overview

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys.[1] The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes).[2] Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.[1]
Last updated: 11/17/2010

References

  1. Oral-facial-digital syndrome. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 11/10/2010.
  2. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1. Accessed 11/10/2010.
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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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OFD syndrome 1
  • OFD1
  • OFDS 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.