Brachydactyly-syndactyly syndrome

Common Name(s)

Brachydactyly-syndactyly syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly-syndactyly syndrome" for support, advocacy or research.

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Aussie Hands

We are committed to children and adults who have been born with a hand difference and to those who have an acquired hand injury, to providing opportunities for networking and exchange of information and to supporting research initiatives focusing on congenital hand anomalies.

Last Updated: 8 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly-syndactyly syndrome" for support, advocacy or research.

Logo
Aussie Hands

We are committed to children and adults who have been born with a hand difference and to those who have an acquired hand injury, to providing opportunities for networking and exchange of information and to supporting research initiatives focusing on congenital hand anomalies.

http://www.aussiehands.org/

Last Updated: 8 Jul 2015

View Details

 

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-syndactyly syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.
 

Author(s): Johannes G Dauwerse, Bert B A de Vries, Cokkie H Wouters, Egbert Bakker, Gudrun Rappold, Geert R Mortier, Martijn H Breuning, Dorien J M Peters

Journal: Eur. J. Hum. Genet.. 2007 Jul;15(7):743-51.

 

Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 ...

Last Updated: 21 Jun 2007

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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
 

Author(s): Xiuli Zhao, Miao Sun, Jin Zhao, J Alfonso Leyva, Hongwen Zhu, Wei Yang, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Wilson H Y Lo, Ethylin Wang Jabs, L Mario Amzel, Xiangnian Shan, Xue Zhang

Journal: Am. J. Hum. Genet.. 2007 Feb;80(2):361-71.

 

HOXD13, the homeobox-containing gene located at the most 5' end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations. ...

Last Updated: 19 Jan 2007

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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 "Brachydactyly-syndactyly 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.