Brachymorphism-onychodysplasia-dysphalangism syndrome

Common Name(s)

Brachymorphism-onychodysplasia-dysphalangism syndrome, BOD Syndrome

BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachymorphism-onychodysplasia-dysphalangism syndrome" 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 "Brachymorphism-onychodysplasia-dysphalangism syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Brachymorphism-onychodysplasia-dysphalangism syndrome.
 

Author(s): A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, L Koulischer

Journal: J. Med. Genet.. 1993 Feb;30(2):158-61.

 

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include ...

Last Updated: 8 Apr 1993

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Reviews from the PubMed Database

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The terms "Brachymorphism-onychodysplasia-dysphalangism syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.