Congenital limb deficiency disorders
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Updated: Apr 11, 2026

Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
Published on: January 12, 2022
William R Wilcox1, Colleen P Coulter2, Michael L Schmitz3
1Department of Human Genetics, Emory University, 615 Michael Street, Whitehead 305H, Atlanta, GA 30322, USA.
Abstract:
Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives.
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