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Updated: Aug 29, 2025

Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
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Hypothesis: Symbrachydactyly.

Lewis B Holmes1,2, Hanah Z Nasri1

  • 1Medical Genetics and Metabolism Unit, Mass General for Children, Boston, Massachusetts, USA.

American Journal of Medical Genetics. Part A
|September 8, 2022
PubMed
Summary
This summary is machine-generated.

Symbrachydactyly is a limb malformation involving short fingers or toes. Researchers suggest restricting the term to this specific phenotype to improve diagnosis and research into its causes.

Keywords:
hypoplastic middle and distal phalangesshort fingers and toessyndactyly

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Pediatrics

Background:

  • Symbrachydactyly is a congenital limb malformation with varied clinical presentations.
  • The term has been broadly applied, encompassing phenotypes like cleft hand and Poland anomaly.
  • A standardized definition is needed for accurate diagnosis and research.

Purpose of the Study:

  • To characterize the phenotype of symbrachydactyly.
  • To propose a refined definition of symbrachydactyly.
  • To guide future research on the etiology of limb malformations.

Main Methods:

  • Analysis of data from the Active Malformations Surveillance Program in Boston (1972-2012).
  • Inclusion of liveborn, stillborn infants, and fetuses with structural abnormalities.
  • Identification of 14 infants with symbrachydactyly of hands or feet.

Main Results:

  • The study identified 14 infants with symbrachydactyly, predominantly affecting the hands (12 cases).
  • The observed phenotype consistently involved short digits and variable syndactyly.
  • Broader definitions previously used included distinct malformations.

Conclusions:

  • The term symbrachydactyly should be restricted to the phenotype of short digits with variable syndactyly.
  • A precise definition will enhance clinical counseling and genetic research.
  • Further studies are needed to identify the specific causes of this limb malformation.