VATER syndrome
| VACTERL association | |
|---|---|
 |
|
| Newborn with radial aplasia of the right arm, is displaying a limb anomaly included in VACTERL Association | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.2 |
| OMIM | 192350 |
| DiseasesDB | 13779 |
The VACTERL association (also VATER association) refers to a recognized group of birth defects which tend to have a non-random occurrence (see below). Note that this pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Some infants are born with symptoms that cannot be fixed and they do not survive. Causes of this association are debated, though it appears to be genetic according to certain studies. Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions.
No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.
VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.
The acronym VATER association was first described by Linda Quan, an emergency room physician and David Smith, a man who was considered the father of dysmorphology in 1972 to define a non-random co-occurrence of the listed defects. Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to VACTERL. The differentiation of the acronyms VACTERL and VATER is due to the variation in defects determined at or prior to birth. VACTERL contains vertebral, anal, cardiac, trachea-esophogeal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophogeal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the visual and physical defects vary from case to case.
The following features are observed with VACTERL association:
Although it was not conclusive whether VACTERL should be defined by at least two or three component defects, it is typically defined by the presence of at least three of the above congenital malformations.
Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 80 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest x-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.
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