VACTERL association, also called VATER association and less precisely VACTERL syndrome, refers to a recognized group of birth defects that tend to co-occur. It is termed an association rather than a syndrome because there is no known pathogenetic cause that explains why the conditions group together. Each affected child presents uniquely, and the condition is currently treated after birth by addressing each issue individually; some infants are born with symptoms that cannot be treated and do not survive. VACTERL association can overlap with similar conditions such as Klippel-Feil syndrome and Goldenhar syndrome, including crossovers between conditions. No specific gene or chromosome problem has been identified with VACTERL association, though it can appear alongside chromosomal defects such as trisomy 18 and is seen more frequently in babies of diabetic mothers; it is most likely caused by multiple factors, and specifically refers to abnormalities in structures derived from the embryonic mesoderm.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable First Described Sources
1. VACTERL association (Wikipedia)
Lead, definition
refers to a recognized group of birth defects which tend to co-occur
History section
The acronym VATER association was first described by Linda Quan, an emergency room physician, and David Smith, who was considered the "father of dysmorphology", in 1972, to define a non-random co-occurrence of the listed defects.
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