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Diseases

Genetic and Rare Diseases Information Center (GARD)

Orofaciodigital syndromes


Other Names for this Disease
  • Orofaciodigital syndrome
  • Oral-facial-digital syndromes
  • Oral facial digital syndromes
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

Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. For most of the types the exact cause of the condition is unknown. Click here to read this and more by visiting an information page on this topic developed by the National Human Genome Research Institute.[1]

See below for a list of orofaciodigital syndromes. These types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits. Click on the embedded links to learn more about each type: 

Orofaciodigital syndrome 1        Orofaciodigital syndrome 8 
Orofaciodigital syndrome 2        Orofaciodigital syndrome 9
Orofaciodigital syndrome 3        Orofaciodigital syndrome 10
Orofaciodigital syndrome 4        Orofaciodigital syndrome 11
Orofaciodigital syndrome 5        Orofaciodigital syndrome 12
Orofaciodigital syndrome 6        Orofaciodigital syndrome 13
Orofaciodigital syndrome 7*

*now considered identical to type 1                                        

Last updated: 2/17/2010

References

  1. Oral-Facial-Digital Syndromes (OFDS) Research Study. National Human Genome Research Institute. 2009; http://www.genome.gov/27529974. Accessed 2/17/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Orofaciodigital syndromes. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • 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

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Orofaciodigital syndromes. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Orofaciodigital syndrome
  • Oral-facial-digital syndromes
  • Oral facial digital syndromes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.