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 72 free, full-text research articles on human participants. First 3 results:

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.
 

Author(s): Kimberly D Williams, John Blangero, Janardan Subedi, Bharat Jha, Thomas Dyer, John L Vandeberg, Bradford Towne, Sarah Williams-Blangero

Journal: Am. J. Hum. Biol.. ;25(6):743-50.

 

There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies.

Last Updated: 23 Oct 2013

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Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
 

Author(s): Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong

Journal: Ann Lab Med. 2013 Mar;33(2):150-2.

 

Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the first metacarpal can also be observed. BDC is a rare genetic condition associated with the ...

Last Updated: 13 Mar 2013

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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
 

Author(s): Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Jeremy A Schwartzentruber, Andrew D Paterson, Pingzhao Hu, Christian Marshall, , Somayyeh Fahiminiya, Jacek Majewski, Chandree L Beaulieu, Kym M Boycott, Frank Rauch

Journal: Am. J. Hum. Genet.. 2013 Feb;92(2):252-8.

 

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. ...

Last Updated: 11 Feb 2013

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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 3 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 IbaƱez, 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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