Orofaciodigital syndromes

Common Name(s)

Orofaciodigital syndromes, Oral-facial-digital syndrome

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.

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                                        

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orofaciodigital syndromes" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Orofaciodigital syndromes" returned 1 free, full-text research articles on human participants. First 3 results:

The orofaciodigital (OFD) syndromes.
 

Author(s): M Baraitser

Journal: J. Med. Genet.. 1986 Apr;23(2):116-9.

 

Last Updated: 27 Jun 1986

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Orofaciodigital syndromes" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 10 Oct 2013

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Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 11 Nov 2014

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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