Brachydactyly Type B

Common Name(s)

Brachydactyly Type B

Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly Type B" 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 "Brachydactyly Type B" returned 6 free, full-text research articles on human participants. First 3 results:

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
 

Author(s): Wibke Schwarzer, Florian Witte, Anna Rajab, Stefan Mundlos, Sigmar Stricker

Journal: Hum. Mol. Genet.. 2009 Nov;18(21):4013-21.

 

Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a distinct combination of phenotypic features. We here report a novel nonsense mutation in ROR2 (c.1324C>T; p.R441X) causing intracellular protein truncation in ...

Last Updated: 7 Oct 2009

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
 

Author(s): K Lehmann, P Seemann, F Silan, T O Goecke, S Irgang, K W Kjaer, S Kjaergaard, M J Mahoney, S Morlot, C Reissner, B Kerr, A O M Wilkie, S Mundlos

Journal: Am. J. Hum. Genet.. 2007 Aug;81(2):388-96.

 

Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients. In a subset of ROR2-negative patients with BDB, clinically ...

Last Updated: 1 Aug 2007

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Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.
 

Author(s): Sigmar Stricker, Nicole Verhey van Wijk, Florian Witte, Norbert Brieske, Kathrin Seidel, Stefan Mundlos

Journal: Dev. Dyn.. 2006 Dec;235(12):3456-65.

 

Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). In this study, we used the chick as a model to investigate the role of Ror2 in skeletogenesis and to elucidate the functional consequences of Ror2 mutations. ...

Last Updated: 20 Nov 2006

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Reviews from the PubMed Database

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The terms "Brachydactyly Type B" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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