VACTERL association
Encyclopedia
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
.
, or curvature of the spine.
Less common defects are truncus arteriosus and transposition of the great arteries.
, which may not require any surgery.
. 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.
The diagnosis is made if at least three of the seven defects are present in an infant.
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
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
Goldenhar syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...
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
Mesoderm
In all bilaterian animals, the mesoderm is one of the three primary germ cell layers in the very early embryo. The other two layers are the ectoderm and endoderm , with the mesoderm as the middle layer between them.The mesoderm forms mesenchyme , mesothelium, non-epithelial blood corpuscles and...
.
Features
- V - Vertebral anomalies
- A - Anal atresia
- C - Cardiovascular anomalies
- T - Tracheoesophageal fistulaTracheoesophageal fistulaA tracheoesophageal fistula is an abnormal connection between the esophagus and the trachea...
- E - Esophageal atresiaEsophageal atresiaEsophageal atresia is a congenital medical condition which affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological...
- R - Renal (Kidney)KidneyThe kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and/or radialRadius (bone)The radius is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna, which exceeds it in length and size. It is a long bone, prism-shaped and slightly curved longitudinally...
anomalies - L - Limb defects
Vertebral 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 scoliosisScoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
, or curvature of the spine.
Anal defects
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.Cardiac defects
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 defects
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 defectVentricular septal defect
A ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
, 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
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 aplasiaRadial aplasia
Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone which connects to the wrist via articulation with the carpal bones. A child born with this condition has either a short or absent radius bone in one or both of his or her...
. 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.
Growth
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.
Epidemiology
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.Pathology
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome.External links
- 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)