Congenital limb deficiency disorders

William R Wilcox; Colleen P Coulter; Michael L Schmitz

doi:10.1016/j.clp.2015.02.004

Congenital limb deficiency disorders

Clin Perinatol. 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004.

Authors

William R Wilcox¹, Colleen P Coulter², Michael L Schmitz³

Affiliations

¹ Department of Human Genetics, Emory University, 615 Michael Street, Whitehead 305H, Atlanta, GA 30322, USA. Electronic address: william.wilcox@emory.edu.
² Orthotics and Prosthetics Department, Children's Healthcare of Atlanta, 5445 Meridian Mark Road, Suite 200, Atlanta, GA 30342, USA.
³ Children's Orthopaedics of Atlanta, Children's Healthcare of Atlanta, 5445 Meridian Mark Road, Suite 250, Atlanta, GA 30342, USA.

PMID: 26042905
DOI: 10.1016/j.clp.2015.02.004

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.

Keywords: Ectrodactyly; Hemimelia; Limb deficiency; Phocomelia; Split-foot; Split-hand.

Publication types

Review

MeSH terms

Abnormalities, Multiple*
Genetic Testing / methods*
Humans
Infant, Newborn
Limb Deformities, Congenital / diagnosis
Limb Deformities, Congenital / genetics*
Phenotype