brachydactyly
Sign in to saveAlso known as nonsyndromic brachydactyly, isolated brachydactyly
Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.
Key facts
- Medical condition (new).name
- Brachydactyly
- Medical condition (new).image
- Brachydactyly.svg
- Medical condition (new).caption
- Different forms of brachydactyly
via Wikipedia infobox
Research
1,583 papers- Brachydactyly.Orphanet journal of rare diseases · 2008
- [Brachydactyly and the molecular mechanisms of digit formation].Yi chuan = Hereditas · 2019
- Undergrowth: brachydactyly.Hand clinics · 2009
- KBG syndrome presenting with brachydactyly type E.Bone · 2019
- Brachydactyly in Pseudopseudohypoparathyroidism.Mayo Clinic proceedings · 2021
via PubMed
Wikidata facts
- Image
- Brachydaktylia.svg
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- ICPC 2 ID
- L82
- exact match
- www.orpha.net/ORDO/Orphanet_294937
- Commons category
- Brachydactyly
Sources (6)
via Wikidata · CC0
~7 min read
Article
11 sectionsContents
- Causes
- Symptoms
- Prognosis
- Treatment
- Diagnosis
- Epidemiology
- Types
- Other syndromes
- See also
- References
- External links
Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.
Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics, the most commonly used index of digit length is the dimensionless ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.