Orofaciodigital syndrome 2

Common Name(s)

Orofaciodigital syndrome 2

Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orofaciodigital syndrome 2" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.