| Diagnoses that may involve sacral agenesis | ||
| Medical name | Description | Abbreviation/ nickname |
| caudal regression syndrome | used interchangeably with sacral agenesis, but includes all the resulting nerve issues that happen along with the spine changes. | CRS |
| Currarino syndrome, Currarino Triad | rare inherited disorder characterized by partial underdevelopment or absence of the sacrum (partial sacral agenesis), a mass in the presacral region, and malformations of the anus and/or rectum (anorectal malformations) | |
| Goldenhar syndrome | all the features of OAVS, characterized by incomplete development of the ear, nose, soft palate, lip, and mandible, can be bilateral, in addition to the facial findings. Those with Goldenhar Syndrome also have other parts of the body such as heart and kidneys affected; possibly more complicated form of OAV. | OAV, OAVS |
| hemifacial microsomia | one side of the face is smaller than the other side; possibly milder form of OAV | OAV, OAVS |
| oculo-auriculo-vertebral spectrum | a group of conditions that typically involve the cheekbones, jaws, mouth, ears and eyes; the bones of the spinal column may also be involved | OAV, OAVS |
| sacral agenesis | describes failure of formation of all or part of the sacrum (the lowest section of the spine), can also include portions of the lumbar spine and be called lumbosacral agenesis or caudal regression syndrome | SA |
| sirenomelia | a rare congenital disorder characterized by anomalies of the lower spine and the lower limbs. The disorder is characterized by partial or complete fusion of the legs. It was once thought to be related to SA/CRS but this has since been disproved. | mermaid syndrome |
| VACTERL association | a series of characteristics which have been found to occur together: V stands for vertebrae, which are the bones of the spinal column.
A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body. C is added to the acronym to denote cardiac anomalies. TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube). R stands for renal or kidney anomalies. L is often added to stand for limb anomalies (radial agenesis). |
VACTERL, VATER |
Medical conditions often mentioned in examinations of SA/CRS
| anal atresia | congenital absence of an opening at the bottom end of the intestinal tract. Also called imperforate anus, anorectal malformation | IA |
| anorectal malformation | congenital malformation of the opening at the bottom end of the intestinal tract. Also called imperforate anus, anorectal malformation | ARM |
| block vertebrae | two or more vertebrae that fail to separate; fused vertebrae | |
| butterfly vertebrae | vertebrae that are “pinched” in the middle to resemble butterfly wings | |
| chronic kidney disease | progressive loss in kidney function over a period of months or years, measured in stages | CKD |
| cloaca, persistent cloaca, cloacal malformation | a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel | |
| clubfoot/congenital talipes equinovarus | unusually positioned foot at birth; each of the following characteristics may be present, and each may vary from mild to severe:
The foot (especially the heel) is usually smaller than normal. |
CTEV |
| congenital vertical talus | the talus bone in the foot is in the wrong place, causing the front of the foot to point up and the bottom of the foot to be stiff and with no arch (flatfoot), usually curving outward like the bottom of a rocker | CVT, rocker bottom foot |
| contracture | A contracture is a condition in which a joint becomes permanently fixed in a bent (flexed) or straightened (extended) position, completely or partially restricting the movement of the affected joint | |
| Detrusor-sphincter dyssynergia | loss of coordination between bladder contraction and external urinary sphincter relaxation: rather than relaxing when the bladder contracts, the sphincter contracts, obstructing the flow of urine from bladder | |
| Detrusor underactivity | Also called under-active bladder (UAB): defined as bladder contractions of reduced strength and/or duration resulting in prolonged bladder emptying and/or a failure to achieve complete bladder emptying within a normal time span` | UAB |
| Detrusor over-activity, detrusor hyperreflexia, detrusor hyperactivity | involuntary contractions of the bladder detrusor muscle from any cause. Also called detrusor hyperactivity, detrusor hyperreflexia. | OAB |
| ectopic kidney | condition in which a kidney is located in an abnormal position | |
| fatty filum | thickened or fatty filum terminale; may cause lack of elasticity that can tether spinal cord | |
| flaccid bladder | volume is large, pressure is low, and contractions are absent causing retention of urine, dribbling of overflow | |
| gastrointestinal reflux | a condition in which the stomach contents leak backwards from the stomach into the esophagus (the tube from the mouth to the stomach). This can irritate the esophagus and cause heartburn and other symptoms. | GERD, GI reflux |
| hemivertebrae | wedge shaped “half” vertebrae | |
| horseshoe kidney | kidneys fuse together to form a horseshoe-shape during development in the womb | |
| hydronephrosis | the swelling of a kidney due to a build-up of urine due to the failure of normal drainage of urine from the kidney to the bladder | |
| imperforate anus | congenital absence of an opening at the bottom end of the intestinal tract. Also called anal atresia, anorectal malformation | IA |
| intestinal malrotation | intestines are not in the normal position | |
| kyphosis | outward curvature of the spine, only a problem if excessive or as a result of bone anomalies | |
| leg length discrepancy | one leg is shorter than the other | LLD |
| lipomyelomeningocele | an abnormal growth of fat grows under the skin of the lower back, goes through the spine and attaches to the spinal cord and its membranes | LMC |
| meningocele | a birth defect where there is a sac protruding from the spinal column. The sac includes spinal fluid, but does not contain neural tissue. | |
| multicystic kidney/renal dysplasia | a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. | |
| myelomeningocele | a birth defect where there is a sac protruding from the spinal column. The sac includes spinal fluid and neural tissue. Commonly called spina bifida. | SB |
| neurogenic bladder | bladder dysfunction caused by, controlled by, or arising in the nervous system. | |
| neurogenic bowel | bowel dysfunction caused by, controlled by, or arising in the nervous system. | |
| occult spinal dysraphism | a group of neurological disorders that relate to malformations of the spinal cord, “hidden” or closed inside the body (unlike open spina bifida). | OSD |
| patellar sublaxation | A subluxing patella (kneecap) is a temporary, partial dislocation of the kneecap from its normal position in the groove in the end of the thigh bone (femur). Can be congenital with SA/CRA, called congenital patellar dislocation. | CPD |
| perineal fistula | a type of anorectal malformation (ARM) that involves a misplaced anal passage that is often narrowed. With a perineal fistula, the abnormal anal opening is located outside of the sphincter muscle. | |
| pes cavas | a foot anomaly characterized by high arch of the foot that does not flatten with weight bearing | |
| popliteal pterygium | condition that is characterized by a web (pterygium) behind the knee | |
| rectovaginal fistula | an abnormal connection between the lower portion of the rectum and vagina, a form of anorectal malformation | |
| renal agenesis | failure of a kidney to develop | |
| scoliosis | side to side curvature of the spine; can be from malformed bones or muscular issues | |
| spastic bladder | volume is typically normal or small, and involuntary contractions occur (bladder spasms) causing leakage | |
| syrinx, syringomyelia | the development of a fluid-filled cyst (syrinx) within the spinal cord | |
| tibial torsion | twisting of the lower leg tibia bone, can be internal (toward other leg) or external (away from other leg) | |
| ventricular septal defect | hole occuring in the wall that separates the heart’s lower chambers (septum) and allows blood to pass from the left to the right side of the heart | VSD |
| vesicoureteral reflux | a backward flow of urine from the bladder into the kidneys, can range from mild to severe: Grade I: urine refluxes into the ureter only
Grade II: urine refluxes into the ureter and up to the kidney without dilation Grade III: urine refluxes into the ureter and kidney and causes mild dilation Grade IV: urine refluxes into ureter and kidney and causes dilation without twisting of the ureter Grade V: urine refluxes into ureter and kidney and causes significant dilation with twisting of the ureter |
VUR |
| Medical conditions sometimes seen with SA/CRS | ||
| Medical name | Description | Abbreviation/nickname |
| omphalacele | rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac | |
| tracheoesophageal fistula | abnormal connection between the trachea and esophagus/oesophagus | TEF/TOF(UK) |
| gastroparesis | also called delayed gastric emptying: a disorder that slows or stops the movement of food from the stomach to the small intestine | GP, DGE |
| situs inversus | a very rare genetic condition in which organs in the chest and abdomen are positioned in a mirror image (opposite side) from normal positions | |
| hemangioma | a benign tumor of blood vessels, often forming a red birthmark | |
| patent foramen ovale | a hole between the left and right atria (upper chambers) of the heart. This hole exists in everyone before birth, but most often closes shortly after being born. PFO is what the hole is called when it fails to close naturally after a baby is born. | PFO |
| torticollis | a condition in which the head becomes persistently turned to one side | |
| ventricular septal defect | hole occurring in the wall that separates the heart’s lower chambers (septum) and allows blood to pass from the left to the right side of the heart | VSD |
| Common procedures, tests, surgeries | ||
| Medical name | Description | Abbreviation |
| antegrade colonic enema | surgery that creates an opening in upper intestines to administer enemas | ACE |
| antegrade colonic enema | surgery that creates an opening in upper intestines to administer enemas | ACE |
| appendicostomy | creation of a pathway from the belly button to the large intestine for enemas; often called a Malone antegrade colonic enema procedure | MACE |
| appendicostomy | creation of a pathway from the belly button to the large intestine for enemas; often called a Malone antegrade colonic enema procedure | MACE |
| appendicovesicostomy | a surgical procedure in which the appendix is used to create a conduit between the skin surface and the urinary bladder. It was named after its developer, Paul Mitrofanoff. | Mitrofanoff, Monti |
| bladder augmentation, augmentation cystoplasty, enterocystoplasty | an operation that uses a piece of bowel to make the bladder bigger | |
| cecostomy | surgical creation of an artificial opening or fistula into the cecum, used with a tube attached to a button (Chait, mickey, gtube) to administer enemas | ACE |
| cecostomy | surgical creation of an artificial opening or fistula into the cecum, used with a tube attached to a button (Chait, mickey, gtube) to administer enemas | ACE |
| colostomy | a surgical procedure that brings one end of the large intestine out through the abdominal wall; a bag is usually attached to collect waste | |
| cystometrogram | used to measure how much urine the bladder can hold. It also measures pressure inside the bladder, and how full it is when you have the urge to go. | CMG |
| cystoscopy | a procedure that allows a doctor to examine the lining of the bladder and the tube that carries urine out of the body (urethra). A hollow tube (cystoscope) equipped with a lens is inserted into the urethra and slowly advanced into the bladder. | |
| disarticulation | the separation of two bones at their joint, either naturally by way of injury or by a surgeon | |
| electromyogram | tests the electrical activity of the muscles and nerves of the pelvic floor. Small sticky sensors are placed near the urethra or rectum to record muscle and nerve activity. This test measures the strength and activity of muscles and nerves in and around the bladder and sphincters. | EMG |
| kidney, ureter, and bladder X-ray | This type of X-ray may be done to check the stomach for causes of stomach pain. It may also be done to check the organs and structures of the urinary or GI system. The X-ray may be the first diagnostic procedure used to check the urinary system. Can also assess bowels. | KUB, flat plate X-ray |
| renal function test, kidney function test | common lab tests used to evaluate how well the kidneys are working. Such tests include:
BUN (Blood urea nitrogen) |
|
| renal scan, renogram, renal scintigraphy | involves the use of trace amount of radioactive material to examine the kidneys and assess their function. A renal scan is also known as a renal scintigraphy, renal imaging, or a renogram. | |
| renal ultrasound, kidney ultrasound | an imaging test that uses sound waves to look at the kidneys. It can check the size, shape, and location of thekidneys. It also lets a healthcare provider see how well blood is flowing in the kidneys. | |
| urodynamics study | test how well the bladder, sphincters, and urethra hold and release urine. These tests can show how well the bladder works and why there could be leaks or blockages. | UDS |
| uroflowmetry | measures how much urine comes out, and how fast. It is done in two parts. A doctor may suggest this test if a patient has trouble urinating, or has a slow stream. | |
| vesicostomy | a surgical opening in the bladder to the outside of the body (lower belly) that allows urine to drain, preventing urinary tract infection or damage to the kidneys | |
| voiding cystourethrogram | uses X-rays and a contrast agent that is administered by catheter into the bladder. A VCUG can also help determine whether the person has reflux. | VCUG |
| Definitions of medical terms | ||
| Medical name | Description | Abbreviation |
| agenesis | lack or failure of development (as of a body part) | |
| antegrade colonic enema | surgery that creates an opening in upper intestines to administer enemas | ACE |
| appendicostomy | the creation of a pathway from the belly button to the large intestine for enemas; often called a Malone antegrade colonic enema procedure | MACE |
| atrophy | decrease in size or wasting away over time | |
| bilateral | both sides | |
| block vertebra | two or more vertebrae that fail to separate; fused vertebrae | |
| butterfly vertebra | vertebra that are “pinched” in the middle to resemble butterfly wings. | |
| caudal | at or near the tail or the posterior part of the body. | |
| caudal equina | a bundle of spinal nerves and spinal nerve roots, consisting of the second through fifth lumbar nerve pairs, the first through fifth sacral nerve pairs, and the coccygeal nerve that innervate the pelvic organs and lower limbs. | |
| cecostomy | surgical creation of an artificial opening or fistula into the cecum, used with a tube attached to a button (Chait, mickey, gtube) to administer enemas. | ACE |
| cecostomy | ||
| cervical | relating to the neck | |
| colostomy | a surgical procedure that brings one end of the large intestine out through the abdominal wall; a bag is usually attached to collect waste | |
| congenital | disease or physical abnormality present from birth | |
| detrusor | a muscle that forms a layer of the wall of the bladder | |
| disarticulation | disarticulation is the separation of two bones at their joint, either naturally by way of injury or by a surgeon | |
| dysgenesis | abnormal development during embryonic growth and development | |
| dysplasia | the abnormal growth or development of a tissue or organ | |
| dysraphism | incomplete or defective closure/fusion, especially of neural tube folds of the spinal cord | |
| dyssynergia | any disturbance of muscular coordination, resulting in uncoordinated and abrupt movements | |
| ectopic | in an abnormal place or position | |
| filum terminale | a delicate strand of fibrous tissue, about 20 cm in length, proceeding from end of spinal cord down to coccyx | |
| fistula | an abnormal passageway or tube between two or more body parts that are not normally joined together | |
| gastrointestinal | relating to the stomach and intestines | GI |
| gluteal | relating to the gluteus muscles/buttocks | |
| hemangioma | a benign tumor of blood vessels, often forming a red birthmark | |
| hypermotility | increased motility of all or part of the gastrointestinal tract | |
| hypomotility | decreased motility of all or part of the gastrointestinal tract | |
| hypoplastic | underdeveloped (referring to an organ or structure) | |
| kyphosis | outward curvature of the spine: only a problem if excessive or as a result of bone anomalies | |
| lipoma | benign fat tumor/mass | |
| lordosis | inward curvature of the spine: only a problem if excessive | |
| lumbar | relating to the area between the chest and sacrum; lower back | |
| neurogenic | caused by, controlled by, or arising in the nervous system | |
| sacral | relating to the sacrum: triangle shaped bones that connect hips to spine | |
| scoliosis | side to side curvature of the spine; can be from malformed bones or muscular issues | |
| sphincter | a ring of muscle surrounding and serving to guard or close an opening or tube, such as the anus or the openings of the bladder or stomach | |
| syndrome | a group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms | |
| thoracic | relating to the thorax or chest: the area between the neck and abdomen | |
| unilateral | one sided | |
| vertebra, vertebrae | bone(s) of the spine |