Brachydactyly

Common Name(s)

Brachydactyly

Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. Many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. Treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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" returned 77 free, full-text research articles on human participants. First 3 results:

Concomitance of types D and E brachydactyly: a case report.
 

Author(s): T Tülay Koca, F Çiledağ Özdemir

Journal: Eur Rev Med Pharmacol Sci. 2015 Dec;19(23):4549-52.

 

Here, we present of a 35-year old female diagnosed with an overlapping form of non-syndromic brachydactyly types D and E with phenotypic and radiological signs. There was observed to be shortening in the right hand metacarpal of 3rd and 4th fingers and left hand metacarpal of 4th ...

Last Updated: 24 Dec 2015

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
 

Author(s): Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman

Journal: Eur. J. Hum. Genet.. 2015 Dec;23(12):1640-5.

 

Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. Human and mouse genetic perturbations in the BMP-SMAD signaling pathway have been associated with many brachymesophalangies, including BDA1, ...

Last Updated: 12 Nov 2015

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Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).
 

Author(s): Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K Valenzuela, Lin He, Jie Ma

Journal:

 

Brachydactyly type A2 (BDA2, MIM 112600) is characterized by the deviation and shortening of the middle phalange of the index finger and the second toe. Using genome-wide linkage analysis in a Chinese BDA2 family, we mapped the maximum candidate interval of BDA2 to a ∼1.5 Mb region ...

Last Updated: 8 Apr 2014

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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" returned 4 free, full-text review articles on human participants. First 3 results:

Brachydactyly E: isolated or as a feature of a syndrome.
 

Author(s): Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibañez, Guiomar Perez de Nanclares

Journal:

 

Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD ...

Last Updated: 15 Nov 2013

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Brachydactyly.
 

Author(s): Samia A Temtamy, Mona S Aglan

Journal:

 

Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly ...

Last Updated: 30 Jun 2008

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Answering a century old riddle: brachydactyly type A1.
 

Author(s): Bo Gao, Lin He

Journal: Cell Res.. 2004 Jun;14(3):179-87.

 

In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so ...

Last Updated: 30 Jun 2004

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Symptoms, Diagnosis, and Treatment

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