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Cited by 158Congenital limb and hand anomaliesConnective tissue disorders researchGenomics and Rare Diseases

Brachydactyly

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Temtamy, Samia A, Aglan, Mona S·2008·Orphanet Journal of Rare Diseases
DOI 10.1186/1750-1172-3-15PMC PMC2441618
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Abstract

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 can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.

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  • Variation in the lengths and number of fingers on human hands results from genetic variation.

    “The variation in the lengths and number of fingers on human hands that results from genetic variation, and there is such variation [14,15], has helped to identify the genes that are involved in constructing human hands in development through the stages from embryo to fetus to neonate.”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [15]

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Authors
Temtamy, S. A., & Aglan, M. S.
Affiliations
National Research Centre (EG)
Corresponding author
Temtamy, Samia A
ORCID
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2008-06-13
Volume
3
Issue
1
Pages
15-15
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/1750-1172-3-15
PMC
PMC2441618
OpenAlex
W3189630080
Cited by
158
References
0
Citations by year
2026: 6 · 2025: 9 · 2024: 5 · 2023: 9 · 2022: 16 · 2021: 8 · 2020: 10 · 2019: 4 · 2018: 8 · 2017: 13 · 2016: 9 · 2015: 12 · 2014: 18 · 2013: 10 · 2012: 6
FWCI
0.88
Type
journal article
Language
en
Open access
Licence
Locations
  • Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Research Centre
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
brachydactyly, limb malformations, short stature, hand malformations, syndactyly, polydactyly, symphalangism, autosomal dominant inheritance, variable expressivity, prenatal diagnosis, genetic counseling, plastic surgery, hand function
MeSH terms
Child, Preschool, Fingers, Foot, Foot Deformities, Congenital, Hand, Hand Deformities, Congenital, Humans, Infant, Pedigree, Radiography, Toes

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