Glossary
Terms listed by Malformation
VACTERL:
This is an acronym formed from Vertebral, Anal, Cardiac, Tracheo-Eosophageal, Renal and Limb abnormalities.
VATER:
This is an older term used before cardiac and limb defects were routinely included.
Other general terms used
Anomalie:
An abnormal structure or development.
Association:
A group of conditions that may occur together.
Congenital:
Present at birth.
V - vertebral
Vertebral anomalies: Abnormal formation of the spinal bones.
Fused vertebrae:
Two or more spinal bones joined together.
Hemivertebrae:
A partially formed vertebrae.
Kyphoscoliosis:
A Spinal condition that combines two types of abnormal spine curvature: Scoliosis, a side-to-side curvature and Kyphosis an excessive forward rounding of the thoracic spine.
Kyphosis:
An excessive forward rounding of the upper back.
Sacral agenesis:
Sacrum incompletely formed.
Sacral dimple:
A small indentation in the lower back near the spine.
Scoliosis:
Sideways curvature of the spine.
Tethered spinal cord (Tethered Cord Syndrome):
A neurological condition in which the spinal cord is abnormally attached (anchored) to surrounding tissues, restricting its normal movement within the spinal canal.
A - anorectal malformation
Anorectal Malformation (ARM):
Also called imperforate anus, anal atresia, or anorectal atresia, are congenital defects in which a baby is born with an absent, blocked, or improperly formed anal opening and/or rectum.
Anorectal anomaly:
Abnormal development of the anus and rectum.
Anal stenosis:
Narrow anal opening.
ARM:
An abbreviation for Anorectal Malformation, where the anus and rectum do not develop properly.
Cloaca (Persistent Cloaca):
A rare congenital malformation in females in which the urinary tract, genital tract, and rectum fail to separate during foetal development and instead merge into a single common channel that opens through one external opening.
Colostomy:
Is a surgical procedure in which an opening (stoma) is created in the abdominal wall and connected to the colon (large intestine), allowing faeces to leave the body through the abdomen instead of through the anus.
Fistula:
An abnormal connection between structures.
Granuloma:
A granuloma is a small, localised area of inflammation formed when the immune system attempts to “wall off” substances it cannot easily eliminate, such as infections, foreign materials, or ongoing irritation.
Malone Antegrade Continence Enema (MACE):
Also called a Malone procedure or Caecostomy (when access is created to the caecum), is a surgical procedure that creates a channel between the abdomen and the bowel to allow enemas to be administered from the beginning of the large intestine rather than through the rectum.
Mitrofanoff procedure:
Reconstructive surgery that creates a tiny, continent channel (stoma) between the bladder and the skin, usually in or near the belly button. It allows a patient to drain urine by inserting a catheter directly through the abdomen.
Pancaking:
Pancaking occurs when your stoma output sticks to the top of your pouch instead of dropping to the bottom.
PSARP (Posterior Sagittal Anorectoplasty):
Is a surgical procedure used to repair anorectal malformations (ARM), such as imperforate anus, by creating or reconstructing the anus in the correct anatomical position.
Rectourethral fistula:
Rectum connects to the urethra.
Rectovaginal fistula:
Rectum connected to the vagina.
Rectovesical fistula:
Rectum connects to the bladder.
Rectovestibular fistula:
Abnormal connection between the rectum and the vulval vestibule.
Urostomy:
Is a surgical procedure that creates an opening (stoma) in the abdomen to divert urine out of the body when the bladder is no longer able to store or pass urine normally.
C - cardiac
Cardiac terms: i.e. related to the heart
Atrial septal defect:
A hole between the upper chambers of the heart (ASD)
Bicuspid Aortic Valve:
Is a congenital heart condition in which the aortic valve has two cusps instead of the normal three.
Coarctation of the aorta:
Narrowing of the aorta.
Dextrocardia:
Heart is positioned on the right side of the chest instead of the left.
Patent Ductus Arteriosus:
A congenital heart defect where the ductus arteriosus, a normal foetal blood vessel that bypasses the lungs, fails to close after birth.
Tetralogy of Fallot:
Is a congenital heart condition made up of four related structural defects of the heart
Ventricular septal defect:
A hole between the lower chambers of the heart (VSD).
T-tracheoesphageal
Anastomosis:
Surgical joining of structures.
Aspiration:
Is when food, liquid, saliva, or stomach contents enter the airway (trachea) and lungs instead of going into the oesophagus and stomach.
Colonic interposition:
Surgical procedure where part of the colon is moved to replace a missing or damaged oesophagus.
Dysphagia:
Difficulty in swallowing.
Fundoplication:
Is a surgical procedure used to treat gastro-oesophageal reflux disease (GORD/GERD) by reinforcing the lower oesophageal sphincter and preventing stomach acid from flowing back into the oesophagus.
GORD:
Gastro oesophageal reflux - stomach contents flow back into the oesophagus.
Long-gap oesophageal atresia:
Is a congenital condition where the upper and lower parts of the oesophagus do not connect and are separated by a large distance, making direct surgical joining difficult.
Oesophagus:
Tube connecting the mouth to the stomach.
Oesophageal atresia:
The oesophagus ends blindly and does not connect properly to the stomach.
Stricture:
Narrowing of oesophagus.
TOFS Bolus:
Food obstruction in the oesophagus, also known as a "stickie"
Trachea:
Windpipe that carries air into the lungs.
Tracheoesophageal:
The trachea and oesophagus.
Tracheoesophageal Fistula:
Connection between the trachea and oesophagus.
R-renal
Genitourinary anomalies:
Abnormalities affecting the urinary/reproductive organs
Horseshoe kidney:
Is a congenital condition in which the two kidneys are fused together, usually at their lower (inferior) ends, forming a U- or horseshoe-shaped structure.
Hydronephrosis:
Is a condition where a kidney becomes swollen because urine cannot drain properly, leading to a build-up of urine inside the kidney.
Hydroureter:
Is a condition where the ureter (the tube that carries urine from the kidney to the bladder) becomes dilated or enlarged, usually due to obstruction or backflow of urine.
Neurogenic bladder:
Is a condition in which the bladder does not function properly due to problems with the nerves that control it, leading to difficulty storing or emptying urine.
Renal agenesis:
Is a congenital condition in which one (unilateral) or both (bilateral) kidneys fail to develop during foetal growth.
Renal malformations refers to congenital abnormalities affecting the kidneys and/or urinary tract that occur during foetal development.
Urethral atresia:
Is a rare congenital condition in which the urethra (the tube that carries urine from the bladder to the outside of the body) is absent or completely blocked, preventing normal passage of urine.
Urinary retention:
Difficulty emptying the bladder.
Vesicoureteral reflux:
Is a condition where urine flows backward from the bladder up into one or both ureters and sometimes into the kidneys, instead of moving one way out of the body.
L-limb
Absent thumb:
Missing thumb.
Forearm hypoplasia:
Underdeveloped forearm.
Polydactyl:
Extra toes/fingers.
Radial aplasia:
Is a congenital condition in which the radius bone (one of the two bones in the forearm) is partially or completely absent, leading to shortening and deformity of the forearm and hand.
Radial dysplasia:
Is a congenital condition in which the radius bone is present but underdeveloped (hypoplastic), lea
ding to shortening and deformity of the forearm and abnormal positioning of the hand.
Syndactyly:
Is a congenital condition in which two or more fingers or toes are fused together, either by skin, soft tissue, or sometimes bone.
Thumb hypoplasia:
Is a congenital condition where the thumb is underdeveloped (smaller, weaker, or less functional than normal).
Limb: Usually involves arms, hands, thumbs.