"Brachydactyly" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital anomaly of abnormally short fingers or toes.
| Descriptor ID |
D059327
|
| MeSH Number(s) |
C05.660.585.262 C16.131.621.585.262
|
| Concept/Terms |
Brachydactyly- Brachydactyly
- Brachydactylies
- Brachydactylism
- Brachydactylisms
- Brachydactylia
- Brachydactylias
|
Below are MeSH descriptors whose meaning is more general than "Brachydactyly".
Below are MeSH descriptors whose meaning is more specific than "Brachydactyly".
This graph shows the total number of publications written about "Brachydactyly" by people in this website by year, and whether "Brachydactyly" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 0 | 1 |
| 2013 | 0 | 1 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Brachydactyly" by people in Profiles.
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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142.
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Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017 Feb 01; 102(2):460-469.
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Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. Am J Med Genet A. 2015 Feb; 167A(2):445-9.
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Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
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Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet A. 2012 Aug; 158A(8):2015-20.