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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Caudal regression syndrome


Other Names for this Disease

  • Caudal dysplasia
  • Caudal regression sequence
  • Sacral agenesis
  • Sacral agenesis syndrome
  • Sacral regression syndrome
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Symptoms

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What are the signs and symptoms of caudal regression syndrome?

The signs and symptoms of caudal regression syndrome vary depending on the severity of the condition.

Some individuals have incomplete closure 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. Curvature of the spine (scoliosis) may also be present. The spinal abnormalities can affect the size and shape of the chest, which may cause breathing problems.

Individuals may have small hip bones and a flat and dimpled buttocks. The leg bones are often underdeveloped. Other features may include clubfeet or calcaneovalgus; decreased sensation in the lower limbs; and/or various abnormalities of the genitourinary tract. In severe cases, affected individuals may have a lack of development of the genitalia (genital agenesis). Gastrointestinal abnormalities may include abnormal twisting (malrotation) of the large intestine; an obstruction of the anal opening (imperforate anus); or inguinal hernias. Constipation and loss of bladder and bowel control are common.[1]
Last updated: 9/25/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal regression syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal form of the vertebral bodies 90%
Abnormality of pelvic girdle bone morphology 90%
Amyotrophy 90%
Aplasia/Hypoplasia of the sacrum 90%
Bowel incontinence 90%
Maternal diabetes 90%
Renal hypoplasia/aplasia 90%
Single umbilical artery 90%
Sirenomelia 90%
Urogenital fistula 90%
Vertebral segmentation defect 90%
Abnormal localization of kidney 50%
Abnormality of female internal genitalia 50%
Aplasia/Hypoplasia of the radius 50%
Ectopic anus 50%
Limitation of joint mobility 50%
Oligohydramnios 50%
Scoliosis 50%
Spina bifida 50%
Talipes 50%
Tracheoesophageal fistula 50%
Transposition of the great arteries 50%
Vesicoureteral reflux 50%
Abnormality of the ribs 7.5%
Aplasia/Hypoplasia of the lungs 7.5%
Arnold-Chiari malformation 7.5%
Cryptorchidism 7.5%
Holoprosencephaly 7.5%
Hypertension 7.5%
Oral cleft 7.5%
Renal insufficiency 7.5%
Anterior sacral meningocele -
Autosomal dominant inheritance -
Back pain -
Constipation -
Headache -
Meningitis -
Neurogenic bladder -
Rectal abscess -
Sacral lipoma -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Caudal regression syndrome. Genetics Home Reference. January 2012; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome. Accessed 9/25/2012.


Other Names for this Disease
  • Caudal dysplasia
  • Caudal regression sequence
  • Sacral agenesis
  • Sacral agenesis syndrome
  • Sacral regression syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.