VACTERL association

VACTERL association, however, is most likely caused by multiple factors.

No specific genetic or chromosome problem has been identified with VACTERL association.

About 80 percent of patients with VACTERL association will have vertebral anomalies.

The following features are observed with VACTERL association:

Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease.

Renal (kidney) defects are seen in approximately 50 percent of patients with VACTERL association.

Babies with VACTERL association, however, do tend to have normal development and normal intelligence.

Radial aplasia is connected with the condition VACTERL association.

VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.

Congenital heart defects are associated with an increased incidence of some other symptoms, together being called the VACTERL association:

VACTERL Association Support Group (UK)

VACTERL association (also VATER syndrome) is a non-random association of birth defects.

VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions.

VACTERL with hydrocephalus is a distinct genetic disorder separate from VACTERL association, a nonrandom association of birth defects.

Examples of syndromes with an hypoplastic thumb are Holt-Oram syndrome, VACTERL association and thrombocytopenia absent radius (TAR) syndrome.

The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot.

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.

VACTERL-H is an expanded form of the VACTERL association that concludes that this diagnosis is a less severe form of sirenomelia.

This is known as VACTERL association because of the involvement of Vertebral column, Anorectal, Cardiac, Tracheal, Esophageal, Renal, and Limbs.

In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two arteries and one vein) which is often associated with additional kidney or urologic problems.

Some babies with TEF are also born with other abnormalities, most commonly those described in VACTERL association - a group of anomalies which often occur together, including heart, kidney and limb deformities.

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.

Renal abnormalities in VACTERL association 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.