Orofaciodigital syndromes

Oral-facial-digital syndrome


Type of disease: Rare conditions

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                                        

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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