title: Congenital limb deficiency disorders.
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.
authors.affiliation: Department of Human Genetics, Emory University, 615 Michael Street, Whitehead 305H, Atlanta, GA 30322, USA. Electronic address: william.wilcox@emory.edu.
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.affiliation: Orthotics and Prosthetics Department, Children's Healthcare of Atlanta, 5445 Meridian Mark Road, Suite 200, Atlanta, GA 30342, USA.
authors.forename: Colleen P
authors.initials: CP
authors.lastname: Coulter
authors.affiliation: Children's Orthopaedics of Atlanta, Children's Healthcare of Atlanta, 5445 Meridian Mark Road, Suite 250, Atlanta, GA 30342, USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Schmitz
mesh_terms: D000015:Abnormalities, Multiple; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
keywords: Ectrodactyly; Hemimelia; Limb deficiency; Phocomelia; Split-foot; Split-hand