Caudal regression syndrome
Other Names for this Disease
- Caudal dysplasia
- Caudal regression sequence
- Sacral agenesis
- Sacral agenesis syndrome
- Sacral regression syndrome
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.
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.
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.
- Caudal regression syndrome. Genetics Home Reference. January 2012; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome. Accessed 9/25/2012.