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Orofaciodigital syndromes

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


  1. Oral-Facial-Digital Syndromes (OFDS) Research Study. National Human Genome Research Institute. 2009; 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) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • 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

  • 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.
  • 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.