Caudal regression syndrome
- Caudal dysplasia
- Sacral agenesis syndrome
- Caudal regression sequence
- Sacral regression syndrome
- Sacral agenesis
The bones of the lower spine are often abnormally shaped or missing, and the corresponding sections of the spinal cord are also abnormal or missing. Affected people can have scoliosis or other abnormalities of the spine. Spinal abnormalities may affect the chest, which can lead to breathing problems.
Some affected people have small hip bones with a limited range of motion. The buttocks may be flat and dimpled. The leg bones are often underdeveloped. In some people, the legs are bent with the knees pointing outward and the feet tucked underneath the hips. Other features affecting the limbs may include clubfeet, calcaneovalgus, and/or decreased sensation in the lower limbs.
Abnormalities of the genitourinary tract are extremely varied. There may be malformations of the kidneys or absence of a kidney, or kidneys that are fused together (horseshoe kidney). Kidney abnormalities can lead to urinary tract infections and progressive kidney failure. There may also be abnormalities of the bladder, or damage to the nerves that control bladder function. Affected males may have hypospadia (the urethra opening on the underside of the penis) or undescended testes. Affected females may have an abnormal connection between the rectum and vagina. In severe cases, an affected person may have no genitalia (genital agenesis).
Gastrointestinal features may include malrotation of the large intestine, an obstruction of the anal opening, and/or inguinal hernias. Constipation and loss of bladder or 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. August, 2015; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome.