The VACTERL association (also VATER association , and less accurately VACTERL syndrome ) refers to a recognized group of birth defects which tend to co-occur (see below ). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
24-539: 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 treated and they do not survive. 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
48-609: A ventricular septal defect , which may not require any surgery. Kidney defects are seen in approximately 50 percent of patients with VACTERL association. 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. 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
72-414: A group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. KFS is not always genetic and not always known about on the date of birth. The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. In 1919, in his Doctor of Philosophy thesis , André Feil suggested another classification of
96-405: 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 . However, no single cause was identified that links all these conditions together. Therefore, this VACTERL is termed as "association" instead of a "syndrome". The differentiation of the acronyms VACTERL and VATER
120-452: A shortened life expectancy , the average being 35–45 years of age among males and 40–50 among females. This condition is similar to the heart failure seen in gigantism . The prevalence of KFS is unknown due to the lack of studies to determine its prevalence. It is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males. This article incorporates information in
144-425: Is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Most people only have one or two of those symptoms so it may not be noticeable without medical imaging. The syndrome is difficult to diagnose, as it occurs in
168-530: Is due to the variation in defects determined at or prior to birth. VACTERL contains vertebral, anal, cardiac, trachea-esophageal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophageal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the physical defects vary from case to case. Klippel Feil Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome ,
192-435: Is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members. 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
216-407: Is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided, as they may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable. In less than 30% of cases, individuals with KFS will present with heart defects. If these heart defects are present, they often lead to
240-536: Is involved with bone and cartilage growth. Mutations of GDF6, GDF3 and MEOX1 cause a reduced number of functional proteins that are coded by these genes, but it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with KFS. However, when the GDF6 gene was removed in mice, the result was the fusion of bones. These mutations can be inherited in two ways: The heterogeneity of KFS has made it difficult to outline
264-422: 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 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
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#1732783514918288-404: 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
312-438: Is usually diagnosed after birth. The most common signs of the disorder are restricted mobility of the neck and upper spine and a shortened neck with the appearance of a low hairline at the back of the head. Associated abnormalities may include: The disorder also may be associated with abnormalities of the head and face, skeleton , sex organs , muscles , brain and spinal cord , arms, legs and fingers. Mutations of
336-525: The GDF6 , GDF3 and MEOX1 gene are associated with KFS. The cause of the condition is unknown in individuals with KFS who do not have mutations of these two genes. GDF6 and GDF3 provide the body with instructions for making proteins involved in regulating the growth and maturation of bone and cartilage. GDF6 specifically is involved in the formation of vertebral bones, among others, and establishing boundaries between bones in skeletal development. GDF3
360-621: The diagnosis as well as the prognosis for this disease. In 1912, Maurice Klippel and Andre Feil independently provided the first descriptions of KFS. They described patients who had a short, webbed neck ; decreased range of motion (ROM) in the cervical spine; and a low hairline. Feil subsequently classified the syndrome into three categories: A classification scheme for KFS was proposed in 1919 by Andre Feil, which accounted for cervical , thoracic , and lumbar spine malformations . However, in 2006, Dino Samartzis and colleagues proposed three classification-types that specifically addressed
384-738: The body tend to have kidney problems on that same side. Features secondary to VACTERL components are frequent enough to be considered an extension of VACTERL. These include: single umbilical artery , ambiguous genitalia , abdominal wall defects , diaphragmatic hernia , intestinal and respiratory anomalies, and oligohydramnios sequence defects. Cardiac defects are thought to fit in this category. 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. Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome . The incidence of VACTERL association
408-467: The cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel–Feil syndrome (Type III). Adjacent segment disease can be addressed by performing cervical disc arthroplasty using a device such as the Bryan cervical disc prosthesis. The option of the surgery is to maintain range of motion and attenuate
432-655: The cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome. Treatment for KFS is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis . If symptomatic treatment fails, spinal surgery may provide relief. Adjacent segment disease and scoliosis are two examples of common symptoms associated with Klippel–Feil syndrome, and they may be treated surgically. The three categories treated for types of spinal cord deficiencies are massive fusion of
456-461: The first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal. Approximately 40-80 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
480-469: The great arteries . It is subsequently thought that cardiac defects should be considered an extension of VACTERL. Esophageal atresia with tracheoesophageal fistula (TO fistula or TOF) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. 15 to 33 percent of patients with TO fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like
504-633: 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
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#1732783514918528-422: 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 to 90 percent of patients with VACTERL association. These anomalies are usually noted at birth. It often require surgery in
552-478: The rate of adjacent segment disease advancement without fusion. Another type of arthroplasty that is becoming an alternate choice to spinal fusion is Total Disc Replacement . Total disc replacement objective is to reduce pain or eradicate it. Spinal fusion is commonly used to correct spinal deformities such as scoliosis . Arthrodesis is the last resort in pain relieving procedures, usually when arthroplasties fail. The prognosis for most individuals with KFS
576-422: The syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine. KFS is associated with many other abnormalities of the body, hence thorough evaluation of all patients with fused cervical vertebrae at birth is required. Furthermore, it is unclear whether KFS is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. KFS
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