caudal regression syndrome

Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.

In this disorder, the bones of the lower spine () are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals.

Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs.

Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis).

People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal ), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function

New on the MedlinePlus Spinal Cord Diseases page:

Genetics Home Reference: caudal regression syndrome

04/13/2016 02:39 PM EDT

Source: National Library of Medicine - NIH

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Summary

Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. It is protected by your vertebrae, which are the bone disks that make up your spine. If you have an accident that damages the vertebrae or other parts of the spine, this can also injure the spinal cord. Other spinal cord problems include

Tumors
Infections such as meningitis and polio
Inflammatory diseases
Autoimmune diseases
Degenerative diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy

Symptoms vary but might include pain, numbness, loss of sensation and muscle weakness. These symptoms can occur around the spinal cord, and also in other areas such as your arms and legs. Treatments often include medicines and surgery.

Start Here

Brain and Spinal Tumors (National Institute of Neurological Disorders and Stroke) - Short SummaryAvailable in Spanish
Brain and Spinal Tumors: Hope through Research (National Institute of Neurological Disorders and Stroke)
Overview of Spinal Cord Disorders (Merck & Co., Inc.)

Diagnosis and Tests

Discography (North American Spine Society)
Magnetic Resonance Imaging (MRI) - Spine (Radiological Society of North America, American College of Radiology)Available in Spanish
Specialized Nerve Tests: EMG, NCV and SSEP (North American Spine Society)
Staging Childhood Brain and Spinal Cord Tumors (National Cancer Institute)Available in Spanish

Treatments and Therapies

Evaluating and Treating Transverse Myelitis (American Academy of Neurology) - PDF
Treatment Option Overview (Childhood Brain and Spinal Cord Tumors) (National Cancer Institute)Available in Spanish
Treatment Option Overview (Childhood Central Nervous System Germ Cell Tumors) (National Cancer Institute)Available in Spanish

Related Issues

Dressing with Ease, Style and Comfort (ALS Association) - PDF

Specifics

Brain and Spinal Cord Tumors in Adults (American Cancer Society)
Brown-Sequard Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary
Central Pain Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary
Hydromyelia (National Institute of Neurological Disorders and Stroke) - Short Summary
Spinal Cord Tumor (Mayo Foundation for Medical Education and Research)
Spinal Infections (North American Spine Society)
Stiff-Person Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary
Tabes Dorsalis (National Institute of Neurological Disorders and Stroke) - Short Summary
Tarlov Cysts (National Institute of Neurological Disorders and Stroke) - Short Summary
Tethered Spinal Cord Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary
Transverse Myelitis (National Institute of Neurological Disorders and Stroke)Available in Spanish
Transverse Myelitis (National Institute of Neurological Disorders and Stroke) - Short Summary