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Updated: Aug 3, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Variable expression of isolated familial long-ring-little syndactyly
1Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.
Journal of Hand Surgery (Edinburgh, Scotland)
|November 1, 2000
Summary
A family with isolated long-ring-little syndactyly shows that a single autosomal gene can cause both simple and complex forms of this condition. This finding expands our understanding of syndactyly genetics.
Area of Science:
- Genetics
- Developmental Biology
- Orthopedics
Background:
- Syndactyly is a congenital condition characterized by the fusion of digits.
- Isolated long-ring-little syndactyly is a specific subtype affecting the fourth and fifth fingers.
- The genetic basis of many syndactyly types remains incompletely understood.
Observation:
- A family exhibiting isolated long-ring-little syndactyly was studied.
- The inheritance pattern suggested a single autosomal gene was responsible.
Findings:
- The reported autosomal gene can manifest as either simple syndactyly (fusion of soft tissues) or complex syndactyly (fusion of bones and soft tissues).
- This indicates genetic heterogeneity or variable expressivity within a single gene locus.
Implications:
- This discovery refines the understanding of the genetic etiology of syndactyly.
- It suggests that genetic counseling and diagnosis for syndactyly should consider a broader spectrum of phenotypic presentations from a single gene.
- Further research into this gene could reveal pathways involved in digit development and separation.
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