Families, Children, Teens and Adults Who Are Living With The Challenges of
Congenital Anorectal, Colorectal or Urogenital Disorders
Abdomen - the belly, that part of the body that contains all of the structures between the chest and the pelvis. The abdomen is separated anatomically from the chest by the diaphragm, the powerful muscle spanning the body cavity below the lungs. The abdomen includes a host of organs including the stomach, small intestine, colon, rectum, liver, spleen, pancreas, kidneys, appendix, gallbladder, and bladder.
ACE Procedures - antegrade colonic enema (ACE) procedure allows fluid to be put into the colon through the abdominal wall. This washes out the colon (like an enema), but is easier to perform and more efficient than a conventional enema. Several types of ACE procedures have been developed including a cecostomy, in which a hole is placed into the abdominal wall directly into the colon, and the Malone procedure, in which the appendix is used as a conduit.
Anorectal Malformation (ARM) - birth defects (problems that happen as a fetus is developing during pregnancy). With this defect, the anus and rectum (the lower end of the digestive tract) do not develop properly.
"Ano" refers to the anus, which is the opening at the end of the large intestine through which stool passes when a child has a bowel movement.
"Rectal" refers to the rectum, which is the area of the large intestine just above the anus.
During a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Muscles in the anal area help to control when we have a bowel movement. Nerves in the area help the muscles sense the need for a bowel movement and also stimulate muscle activity.
With an anorectal malformation, several abnormalities can occur, including the following:
* the anal passage may be narrow
* a membrane may be present over the anal opening
* the rectum may not connect to the anus
* the rectum may connect to part of the urinary tract or the reproductive system through a passage called a fistula
The treatment for the malformation depends on which type of abnormality is present.
Anorectal Manometry - a rectal motility test that measures the nerve and muscle functions of the rectum and anal sphincter. During this test, a catheter (flexible plastic tube) is inserted into the anus and then into the rectum. A small balloon on the end of the catheter is then inflated gradually and this causes the nerves and muscles in the rectum and anus to start to squeeze. These signals are picked up by sensors contained in the catheter and recorded by a machine. The test takes about 40 minutes.
Anus - the external opening of the rectum. Closure is controlled by sphincter muscles. Feces are expelled from the body through the anus during the act of defecation, which is the primary function of the anus.
Appendix - a worm-like appendage that projects off the cecum and is found in the lower right quadrant of the abdomen.
Ascending Colon - The part of the colon on the right side of the abdomen. It is about one foot in length, and is located between the cecum and the transverse colon.
Autonomic nervous system - the 'unconscious' nervous system which is separate from, but linked to that of the spinal cord. It controls the bladder and bowels, blood circulation and sweating.
Barium enema - test given in order to perform an x-ray examination of the large intestines. Pictures are taken after rectal instillation of barium sulfate (a radiopaque contrast medium).
Bladder - the organ that collects urine excreted by the kidneys prior to disposal by urination. Urine enters the bladder via the ureters and exits via the urethra.
Bowel - small and/or large intestine. The small intestine is sometimes called the small bowel. The large intestine is also called the colon.
Bowel Prep - process of preparing the bowel for a procedure or surgery. The prep may include oral liquids, pills, enemas and/or a special diet.
Catheter - a flexible tube used to drain fluid from or inject fluid into the body. The most common catheters are the Foley catheter, used to drain urine from the bladder, and intravenous (IV) catheters inserted into veins to administer fluids.
Caudal Regression Syndrome - a rare disorder characterized by abnormal development of the lower spine of the developing fetus. The most common deformities involve sacral agenesis (often used synonymous with CRS), but this may extend as far as the lower thoracic region. Isolated coccygeal agenesis may be asymptomatic. Common findings include: latex allergy, paralysis or numbness of the legs; loss or impaired control over bowel movements and urination; hip dislocation and joint contractures; low tone musculature; clubfoot; anal and urinary system defects; multiple cysts or partial fusion of the kidneys; swelling of the pelvis due to a blockage in the urinary system; displacement of the external sex organs; and/or a defect in which the urinary opening is on the underside of the penis (hypospadias). Scoliosis and kyphoscoliosis are also common. More involved cases include gastrointestinal, respiratory, cardiac (Tetralogy of Fallot) and extensive neurological deficiencies.
Synonyms: Caudal Dysplasia, Caudal Dysplasia Sequence, Sacral Agenesis, Congenital Sacral Regression
Cecostomy - 1. Opening between cecum and exterior: a surgically formed connection between the interior first part of the large intestine and the outside that is made through an opening in the front of the abdominal wall 2. surgery to join cecum to exterior: an operation to form a surgical connection between the interior of the start of the large intestine and the outside, through an opening in the front of the abdominal wall.
Cecum - very first part of the colon. The small intestine inserts into the cecum via the ileocecal valve.
Chait cecostomy appliance - one type of appliance (button) available for use in a cecostomy.
Cloaca, persistent - Persistent cloaca, a complex malformation, is defined as a defect in which the rectum, vagina and urinary tract are fused together into a single common channel that communicates exteriorly through a single perineal orifice located at the normal urethral site.
Cloacal Exstrophy - a rare and complicated defect that occurs during the prenatal development of the lower abdominal wall structures. (The cloaca is the part of an embryo that develops into these structures) A child with cloacal exstrophy is born with many inner-abdominal structures exposed. A portion of the large intestines lies outside of the body, and on either side of it are the two halves of the bladder. In males, the penis is usually flat and short, sometimes split in half. In females the clitoris is split. Oftentimes in cloacal exstrophy there may be two vaginal openings. The following are descriptions of the components that make up cloacal exstrophy:
* Omphalocele: in this defect, some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs. The omphalocele may be small, with only a portion of the intestine protruding outside the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) present outside the abdominal cavity.
* Exstrophy of the cloaca: the bladder is open in half and the rectum is not open in the normal location, but rather communicates with the bladder.
* Imperforate Anus: the anus has not been formed or perforated, and the colon communicates with the bladder. Spinal defects: these defects may either be major or minor. Many times children born with cloacal exstrophy are also born with varying degrees of spina bifida.
Coccyx - Commonly called the tailbone, the coccyx is composed of four separate but fused vertebrae that make up the bottom of the spine.
Colon - the long, coiled, tube-like organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. Another term for the large intestine.
* Ascending - The part of the colon on the right side of the abdomen. It is about one foot in length, and is located between the cecum and the transverse colon.
* Transverse - the part of the large intestine that extends across the abdominal cavity and joins the ascending to the descending colon
* Descending - the part of the large intestine that descends from the transverse colon to the sigmoid colon and the part of the colon where stool is stored. It is located on the left side of the abdomen.
* Sigmoid - The portion of the colon shaped like a letter 'S' or 'C', extending from the descending colon to the rectum. The walls of the sigmoid colon are muscular, and contract to increase the pressure inside the colon, causing the stool to move into the rectum.
Colorectal - related to the colon and/or rectum.
Colostomy - surgical approach in which a section of the colon is brought out through an opening (stoma) created in the abdominal wall. Stool then passes into a small bag securely fastened over the opening.
* Ascending - located within the ascending colon. Output is liquid to semiliquid, rich in digestive enzymes and irritating to the skin around the stoma.
* Transverse - located within the transverse colon. Output is usually liquid to semiformed, because the digestive enzyme content decreases as the stoma moves farther to the left of the transverse colon.
* Descending - located within the descending colon. Output is semiformed to formed, because much of the water is absorbed as waste moves through the ascending and transverse colon.
* Sigmoid - located within the sigmoid colon. Output has a normal, formed consistency, since the water is absorbed as the waste passes through the remaining large bowel.
* Double-barrel colostomy - consists of two separate stomas, one draining stool, and the other draining mucous that is produced by the distal or further portion of bowel. This is frequently considered a temporary colostomy.
* Loop colostomy - consists of one stoma, which has two openings which function the same as the double-barrel colostomy above; one opening drains stool, the other drains mucous. Double-barrel and loop colostomies are often spoken of as being the same thing.
Computer Aided Tomography (CT) Scan - a sophisticated diagnostic imaging procedure that uses a computer and x-rays to present cross-section "slices" of areas of the body.
Contrast Enema - a test which uses X-rays and a special kind of enema solution and/or air to take pictures of the colon or large bowel, which is the lower part of the intestines. The test shows the doctor if there are abnormalities of the colon or distal small intestine. There are two types of positive contrast enemas:
* A contrast enema that uses an enema fluid that shows up on X-ray. The only special preparation is to make sure your child does not eat or drink for two hours before the test. This test is commonly used for patients with chronic constipation to help diagnose Hirschsprung's disease.
* An air contrast barium enema uses air along with an enema fluid (barium) that shows up on X-ray. Air contrast barium enemas are frequently done to look for a source of rectal bleeding (such as a polyp). Bowel preparation is required for this test.
Currarino Triad - Congenital caudal anomalies that include anorectal malformation, sacral bony abnormality and a presacral mass is known as the Currarino Triad (CT); an autosomic dominant hereditary syndrome described in 1981 caused by abnormal separation of neuroectoderm from endoderm. The anorectal malformation associated with CT is stenosis (or agenesis) of the distal rectum causing intractable constipation (chief complaint of this triad) or intestinal obstruction. Sacral agenesis and abnormalities of the sacrum (scimitarsacrum, hemisacrum with preserved first sacral vertebra) are the most common bony anomalies identified. Most frequently the presacral mass in CT is reported to be an anterior meningocele, a benign teratoma, enteric, dermoid cyst or a combination. Though prenatal diagnosis can be made, most cases are diagnosed postnatally in the first decade of life. Routine pelvic x-rays should be done in all cases of anorectal stenosis. Pelvic ultrasound and x-rays in patients with history of chronic constipation since early childhood will suggest the diagnosis. MRI is the study of choice detecting the presacral mass and any anomalies of the spinal canal (tethered cord syndrome caused by the presacral mass. Management consists of excision of the presacral mass and repair of the anorectal malformation. A gene associated with CT has been mapped to the terminal portion of the long arm of chromosome 7 (7q36).
Cystogram - a series of x-ray films of the bladder, usually obtained during cystoscopy, IVP/IVU or urodynamics.
Cystoscopy - visual examination of the bladder with a tiny instrument inserted through the urethra.
Defogram - or defocography study, is a painless X-ray examination that provides information on the function of the lower colon or rectum, and the surrounding organs such as the bladder, vagina and small bowel. A defogram analyzes the pelvic muscles, specifically their strength and control. Contrast is introduced rectally as in a barium enema; however a defogram involves the patient actually pushing to evacuate the contrast material as though having a bowel movement.
Dehydration - a state caused by excessive loss of fluid from the body and/or inadequate intake of fluids.
Descending Colon - part of the large intestine that descends from the transverse colon to the sigmoid colon and the part of the colon where stool is stored. It is located on the left side of the abdomen.
Diarrhea - frequent passage of loose, watery stool.
Duodenum - first portion of the small intestine extending from the stomach to the jejunum; most chemical digestion and absorption of nutrients occurs here.
Enema - technique for emptying the bowel by introducing liquid into the rectum to loosen the feces and provoke a bowel movement.
Enterocolitis - an inflammation of both the small and large intestine. However, most conditions are categorized as one or the other of the following:
* Enteritis is the inflammation of the small intestine
* Colitis is inflammation of the large intestine, especially the colon
Failure to thrive - a medical term which denotes poor weight gain and physical growth failure over an extended period of time in infancy. Often abbreviated FTT, the term has been in medical use for over a century. As used by pediatricians, it covers poor physical growth of any cause and does not imply abnormal intellectual, social, or emotional development.
Fecal incontinence - the inability to control bowel movements or gas.
Fistula - an abnormal passage, opening or connection between two internal organs or from an internal organ to the surface of the body.
Gastroenterologist - doctor who specializes in diagnosing and treating disorders of the digestive system.
Gastrointestinal (GI) - Having to do with the digestive tract, which includes the mouth, esophagus, stomach, and intestines.
Gastrostomy - surgical procedure in which an opening is made into the stomach from the outside. It is usually performed to allow nutrition and/or medications to be administered directly into the stomach when swallowing is difficult because of disease or obstruction of the esophagus.
Hirschsprung's Disease (HD) - occurs when some of the nerve cells that are normally present in the intestine do not form properly while a baby is developing during pregnancy. In children with Hirschsprung's disease, a lack of nerve cells in part of the intestine interrupts the signal from the brain and prevents peristalsis in that segment of the intestine. Because stool cannot move forward normally, the intestine can become partially or completely obstructed (blocked), and begins to expand to a larger than normal size. The problems a child will experience with Hirschsprung's disease depend on how much of the intestine has normal nerve cells present. Seventy percent of babies with Hirschsprung's disease are missing nerve cells in only the last one to two feet of the large intestine. Hirschsprung's disease causes 25 percent of intestinal obstructions that occur in newborns.
Hydrocele - swelling of and fluid on the testicles.
Hypospadias - a congenital anomaly in boys resulting in the abnormal location of the urethral opening. This is often associated with penile curvature (chordee). The hypospadiac opening may be within the scrotum or just below where the urethra is normally found. Hypospadias repair places the urethra in a normal location and removes the abnormal foreskin. Chordee repair is performed simultaneously. Complications are uncommon but may occur more often with more severe forms of the disorder.
Ileostomy - an operation in which the end of the small intestine, the ileum, is brought out through an opening in the abdomen. The contents of the intestine, unformed stool, are expelled through this opening into a bag called an appliance.
Ileum - last portion of the small intestine. The residue that remains after passing through the ileum enters the colon through the ileocecal valve.
Imperforate Anus - an abnormality of the anus and rectum that is present at birth. The infant is born without a normal rectal opening. Another name for imperforate anus is "anorectal anomaly." In most cases the imperforate anus is obvious on the first day of life as the infant has no anal opening or, the rectal opening is abnormally placed. Occasionally infants are not diagnosed until several months of age. There is variation in the degree of abnormality of the rectum. It may vary from a low imperforate anus where the rectum may be in the normal location but is too tight to allow the infant to have a bowel movement; to an intermediate imperforate anus where the opening is too close to the urethra; to a high imperforate anus where the rectal opening is completely absent.
Indwelling catheter - a tube usually made of rubber or silicone which remains inserted in the bladder at all times to drain urine
Intermittent catheterization - introduction of a catheter into the bladder to empty it at regular intervals.
Intestines - part of the digestive system extending from the stomach to the rectum; includes both the small and large intestines and functions in the absorption of water and nutrients; also called bowel or gut.
Intravenous - within a vein; often used in the context of an injection into a vein of a medication dissolved in a liquid.
Intravenous Pyelography (IVP) - X-ray study of the kidneys, ureters, and bladder. The x-rays are taken after a dye is injected into a blood vessel. The dye is concentrated in the urine, which outlines the kidneys, ureters, and bladder on the x-rays.
Jejunostomy Tube - a tube which is placed through the skin and into the small bowel to allow administration of food directly into the small bowel for satisfying the nutritional needs of the patient.
Jejunum - the longest part of the small intestine extending from the duodenum to the ileum.
Kidney - one of two paired organs (the kidneys) that continually filter the blood to separate out waste products, which are combined with excess water to form urine.
Latex Allergy - an allergic reaction caused by the proteins in natural rubber or latex in some people. The thin, stretchy latex rubber in gloves, condoms and balloons is high in this protein. It causes more allergic reactions than products made of hard rubber (like tires). Also, because some latex gloves are coated with cornstarch powder, the latex protein particles stick to the cornstarch and fly into the air when the gloves are taken off. In places where gloves are being put on and removed frequently, the air may contain many latex particles.
Laxative - a substance (food or medicine) taken to cause a bowel movement.
Lumbar - the lower part of the spine between the thoracic vertebra and the sacrum. The lumbar spine consists of five vertebrae - the five movable spinal segments of the lower back and largest of the spinal segments.
Malone Procedure - the procedure connects the appendix to the umbilicus, creating an orifice with a one-way valve mechanism through which the patient can administer the enemas. The procedure allows the patient to irrigate the colon from above (antegrade enema) instead of from the rectum (rectal enema). Variations on this technique may include connecting the appendix to the lower abdomen and/or using other native tissue in cases where the appendix is not available or is being used for another procedure.
Magnetic Resonance Imaging (MRI) - procedure in which a magnet linked to a computer is used to create detailed pictures of areas (imaging) inside the body.
Mic-Key - a skin level tube type appliance used for a gastrostomy (in the stomach) or for a cecostomy (in the cecum/colon).
Micturition - urination, peeing.
Mitrofanoff appendicovesicostomy (Mitrofanoff procedure) - attaches the appendix between the skin and the bladder in order to provide an outlet for urine. In the procedure, a surgeon removes the appendix from its place at the end of the cecum. The appendix is then washed and an opening made at its blind end. One end is connected by sutures to the bladder and the other is connected to the skin. Urine is typically drained several times a day by use of a catheter inserted into the Mitrofanoff canal. If the appendix is not available for use, a different part of the intestines may be used.
Myelogram - x-ray of the spine after injection of an x-ray opaque dye into the spinal column.
Nasal Gastric Tube (NG) - a tube that is placed through the nose into the stomach that is used when a child cannot eat by mouth, or requires more calories to grow. An NG tube can also be used when a bowel clean-out is needed (for instance, prior to surgery) to avoid having to drink a large quantity of Go-lytely or other bowel prep medications.
Necrotizing Enterocolitis (NEC) - a condition in which part of the tissue in the intestines is destroyed; occurs mainly in under-weight newborn babies; a temporary ileostomy may be necessary.
Neurogenic Bladder - condition in which the control of urinary bladder control is disturbed. Symptoms include frequent or urgent urination, loss of the urge sensation, inability to empty the bladder even though the urge may be present or loss of bladder control, which then empties itself irregularly and spontaneously.
Ostomy - operation to create an opening (a stoma) from an area inside the body to the outside.
Pelvic floor - refers to the diaphragm, the sphincter mechanism of the lower urinary tract, the upper and lower vaginal supports, and the internal and external anal sphincters. It is a network of muscles, ligaments, and other tissues that hold up the pelvic organs.
Pelvic Organs - the vagina, rectum, uterus and bladder in females; rectum, bladder, prostate and seminal vesicles in males.
Pelvis - bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organs. The legs connect to the body at the pelvis.
Partial Parenteral Nutrition (PPN) - a form of nutrition administered through a peripheral intravenous catheter. PPN is normally prescribed for patients who can tolerate some oral feedings but cannot ingest adequate amounts of food to meet their nutritional needs.
Patient Controlled Analgesics (PCA) - a means for the patient to self-administer analgesics (pain medications) intravenously by using a computerized pump, which introduces specific doses into an intravenous line. The purpose of PCA is improved pain control. The patient receives immediate delivery of pain medication without the need for a nurse to administer it. The patient controls when the medication is given. More importantly, PCA uses more frequent but smaller doses of medication, and thus provides more even levels of medication within the patient's body. Syringe-injected pain management by a nurse requires larger doses of medication given less frequently. Larger doses peak shortly after administration, often causing undesirable side effects such as nausea and difficulty in breathing. Their pain-suppressing effects also often wear off before the next dose is scheduled.
Percutaneous Endoscopic Gastrostomy Tube - a surgical procedure for placing a feeding tube without having to perform an open operation on the abdomen (laparotomy). A gastrostomy (a surgical opening into the stomach) is made percutaneously (through the skin) using an endoscope (a flexible, lighted instrument) to determine where to place the feeding tube in the stomach and secure it in place.
Peristalsis - the process of contraction and expansion by which food is moved through the intestines.
Posterior Sagittal Anorectoplasty (PSARP) - the surgical procedure for patients born with anorectal malformations (imperforate anus) whereby the rectum is found through a mid-buttock incision, and mobilized to reach the skin, and then placed at the center of the sphincter mechanism.
Posterior Sagittal Anorectovaginourethoplasy (PSARVUP) -the surgical procedure for patients born with cloacal malformations whereby the urethra, vagina, and rectum are identified via a mid-buttock incision, mobilized, brought to reach the skin, and placed in their anatomically correct locations.
Prolapse - the bulging out of any mucosa lined structure, usually used to refer to a rectal prolapse, when the rectal wall bulges out past the anal opening. This can occur following surgery for anorectal malformations, and also rarely occurs in a patient who never has had surgery.
Pyloric Sphincter (or valve) - a strong ring of smooth muscle at the end of the pyloric canal and lets food pass from the stomach to the duodenum.
Pylorus -the region of the stomach that connects to the duodenum. It is divided in two parts:
* the pyloric antrum, which connects to the body of the stomach.
* the pyloric canal, which connects to the duodenum.
Rectum - the final portion of the large intestine. It empties stool from the body through the anus.
Reflux (of urine) - the backing up of urine into the ureters and/or kidneys. This happens when the bladder is full and is not regularly emptied.
Saline - a solution of salt and water. In medicine, saline is a salt solution that is adjusted to the normal salinity of the human body. Home made saline used in bowel management is made by adding 1 teaspoon of plain or kosher salt to 500cc of warm water.
Sacrum - wedge-shaped bone consisting of five fused vertebrae forming the posterior part of the pelvis; its base connects with the lowest lumbar vertebra and its tip with the coccyx.
Sigmoid Colon - the portion of the colon shaped like a letter 'S' or 'C', extending from the descending colon to the rectum.
Small Intestine - the section of the intestines between the stomach and colon consisting of approximately 20 feet. It is divided into three major sections the duodenum, the jejunum and ileum. Digestion and absorption occurs primarily in these areas.
Sphincter - circular muscle at base of bladder neck and also around the anus, which controls opening of the bladder and bowel respectively.
Stoma - A surgically created opening from an area inside the body to the outside.
Suprapubic catheter - a tube inserted through a small puncture hole in the lower abdomen into the bladder where it remains to provide a continuous urinary drainage system.
Tethered Spinal Cord (TC) - a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord.
Total Parenteral Nutrition (TPN) - given when a patient requires an extended period of intensive nutritional support. It is usually administered through a central venous catheter. TPN solutions contain high concentrations of proteins and dextrose. Various components like electrolytes, minerals, trace elements, and insulin are added based on the needs of the patient. Total parenteral nutrition provides the calories a patient requires and keeps the body from using protein for energy. TPN is given using an infusion pump.
Transverse Colon - the part of the large intestine that extends across the abdominal cavity and joins the ascending to the descending colon
Ureter - tube that carries urine from the kidney to the bladder.
Ureterostomy - procedure in which one or both ureters are brought through the abdominal wall to form stoma(s), often a loop ostomy. A temporary procedure (unless the bladder is removed) that is frequently performed on children.
Urethra - the tube which conveys urine from the bladder to the outside. The female urethra is very short, extending from the bladder to the urinary opening at the vulva. The male urethra is longer, extending along the length of the penis. It also conveys the seminal fluid.
Urinary incontinence - the involuntary loss of urine.
Urinary Tract - passageway from the pelvis of the kidney to the urinary orifice through the ureters, bladder, and urethra. There is an upper urinary tract (2 kidneys and 2 ureters) and a lower urinary tract (bladder, sphincters and urethra).
Urinary Tract Infection (UTI) - infection in one or more parts of the urinary system that occurs as a result of bacteria growing in the urinary tract; not everyone with a UTI develops symptoms, but when they do occur, symptoms develop suddenly and include a burning sensation while urinating.
Urodynamics - special investigative procedure for assessing bladder function. Radio-opaqued dye is introduced into the bladder via a catheter which also contains pressure sensors, allowing doctors to observe the bladder working, to measure the efficiency of bladder emptying, voiding pressures and to assess potential for renal (kidney) problems.
Uterus - a muscular organ of the female reproductive system, situated between the bladder and the rectum. It houses and nourishes the fertilized egg from the time at which the egg is implanted in the uterus a few days after conception, right through to the time at which the child is born nine months later
VACTERL Association - a nonrandom association of birth defects. VACTERL is a mnemonic in which the letters V, A, C, T, E, R, and L each stand for one or more types of malformation:
* V = Vertebral anomalies
* A = Anal atresia (no hole at the bottom end of the intestine)
* C = Cardiac defect, most often ventricular septal defect
* TE = TracheoEsophageal fistula (communication between the esophagus and trachea) with esophageal atresia (part of the esophagus is not hollow)
* R = Renal (kidney) abnormalities
* L = Limb abnormalities, most often radial dysplasia (abnormal formation of the thumb or the radius bone in the forearm).
VATER Association - a pattern of related birth defects in the same infant involving three or more of the following:
* vertebrae (spine)
* anus and rectum
* trachea (windpipe)
* radius (bone of the arm), and/or kidneys
Infants can have any combination of features and there is a wide range of severity. Survival and medical complications depend on the extent and severity of features in each case.
Vertebrae - the bones that make up the spinal column.
* Cervical - the neck area. The cervical section of the spinal cord contains 8 nerve roots (C1-C8) which controls movement of the neck, shoulders, arms and wrists as well breathing.
* Lumbar - the lower back area. The lumbar section of the spinal cord contains 5 nerve roots (L1-L5) which control the muscles of the legs.
* Thoracic - the chest area. The thoracic section of the spinal cord contains 12 nerve roots (T1-T12) which control the muscles of the ribs, chest and abdomen.
Vesicostomy - An incision made in the bladder allowing urine to pass through an opening in the abdominal wall.
Voiding Cystourethrogram (VCUG) - a specific x-ray that examines the urinary tract. A catheter (hollow tube) is placed in the urethra (tube that drains urine from the bladder to the outside of the body) and the bladder is filled with a liquid dye. X-ray images will be taken as the bladder fills and empties. The images will show if there is any reverse flow of urine into the ureters and kidneys.