VACTERL association Classification and external resources
Newborn with radial atresia of the right arm, is displaying a limb anomaly included in VACTERL Association
ICD-10 Q87.2 OMIM 192350 DiseasesDB 13779
VATER syndrome or VACTERL association is a non-random association of birth defects. The reason it is called an association, rather than a syndrome is that while all of the birth defects are linked, it is still unknown which genes or sets of genes cause these birth defects to occur.
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time.
Causes of this association are debated. 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.
- V - Vertebral anomalies
- A - Anal atresia
- C - Cardiovascular anomalies
- T - Tracheoesophageal fistula
- E - Esophageal atresia
- R - Renal (Kidney) and/or radial anomalies
- L - Limb defects
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 70 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.
Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.
Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. Less common defects are truncus arteriosus and transposition of the great arteries.
Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a ventricular septal defect, which may not require any surgery.
Renal / Kidney defects
Renal (kidney) defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35% of patients with VACTERL association have a single umbilical artery (there are usually two arteries and one vein) which can often be associated with kidney or urologic problems. These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.
Limb defects occur in up to 70 percent of babies with VACTERL association and include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects such as radial aplasia. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.
Many babies with VACTERL are born small and have difficulty with gaining weight. Babies with VACTERL association, however, do tend to have normal development and normal intelligence.
The diagnosis is made if at least three of the seven defects are present in an infant.
The VACTERL association has an estimated incidence of 16 cases per 100,000 live births. It is seen more frequently in infants born to diabetic mothers. It is rarely seen more than once in one family.
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome.
- VACTERL Support Group Forums -VACTERL Association Family network
- VACTERL Support Group -VACTERL Connection Forums
- VACTERL or VATER Association -Cincinnati Children's Hospital Medical Center
- VATER/VACTRL Association - University of Kansas Medical Center page with links to various information and support site
- VACTERL Association Support Group (UK)
Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Short stature Limbs Overgrowth Laurence-Moon-Bardet-BiedlBardet–Biedl syndrome · Laurence-Moon syndrome Combined/other,
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