Brachydactyly Type A1

Common Name(s)

Brachydactyly Type A1

In the classification of the brachydactylies, the analysis by {1:Bell (1951)} proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 Another locus for this phenotype, designated BDA1B ({607004}), has been mapped to chromosome 5. A third form of BDA1, BDA1C ({615072}), is caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly Type A1" 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 Type A1" returned 6 free, full-text research articles on human participants. First 3 results:

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
 

Author(s): Gang Ma, Jiang Yu, Yue Xiao, Danny Chan, Bo Gao, Jianxin Hu, Yongxing He, Shengzhen Guo, Jian Zhou, Lingling Zhang, Linghan Gao, Wenjuan Zhang, Yan Kang, Kathryn S E Cheah, Guoyin Feng, Xizhi Guo, Yujiong Wang, Cong-zhao Zhou, Lin He

Journal: Cell Res.. 2011 Sep;21(9):1343-57.

 

Brachydactyly type A1 (BDA1), the first recorded Mendelian autosomal dominant disorder in humans, is characterized by a shortening or absence of the middle phalanges. Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, ...

Last Updated: 5 Sep 2011

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Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
 

Author(s): N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, A Renieri

Journal: J. Med. Genet.. 2003 Feb;40(2):132-5.

 

Last Updated: 4 Feb 2003

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Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
 

Author(s): T J Kirkpatrick, K-S Au, J M Mastrobattista, M E McCready, D E Bulman, H Northrup

Journal: J. Med. Genet.. 2003 Jan;40(1):42-4.

 

Last Updated: 14 Jan 2003

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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 Type A1" returned 1 free, full-text review articles on human participants. First 3 results:

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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