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Disease Profile
Caudal regression sequence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q76.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Caudal dysplasia; Sacral agenesis syndrome; Sacral regression syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases;
Summary
Caudal regression sequence (CRS) affects the development of the lower (caudal) half of the body. It can impact the development of the lower back, spinal cord, and lower limbs. The kidneys, bladder, digestive tract, and genitalia may also be affected. CRS occurs during fetal development and is present at birth. The features and severity vary from person to person. In some cases, CRS is severe and can be life-threatening. In other cases, people with CRS may have problems with bowel and bladder control and be unable to walk. CRS is not known to affect the development of the brain and intelligence is generally average. The cause of CRS is unknown, and is thought to be due to a combination of genetic and
Symptoms
Symptoms may include:[1][2][3]
- Abnormalities of the lower spine and spinal cord
- Underdevelopment of the legs
- Underdeveloped hips
- Fused kidneys or underdeveloped kidneys
- Damage to the nerves to the bladder
- Urethral opening on the underside of the penis (hypospadias)
- Abnormal connection between the rectum and the vagina
- Twisted intestine (malrotation of the large intestine)
- Underdevelopment of the heart
People with CRS may develop curvature of the spine (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal vertebral segmentation and fusion | 0005640 | |
Abnormality of the wing of the ilium | 0011867 | |
Aplasia/Hypoplasia of the sacrum |
Absent/small sacrum
Absent/underdeveloped sacrum
[ more ] |
0008517 |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Decreased muscle mass | 0003199 | |
Hypoplastic vertebral bodies |
Underdeveloped back bones
|
0008479 |
Impulsivity |
Impulsive
|
0100710 |
Maternal diabetes |
gestational diabetes
|
0009800 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Anal atresia |
Absent anus
|
0002023 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Reduced tendon reflexes | 0001315 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Scoliosis | 0002650 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Ureteral |
Double ureter
|
0000073 |
Vesicoureteral reflux | 0000076 | |
5%-29% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Arnold-Chiari malformation | 0002308 | |
Arrhinencephaly | 0002139 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
0000822 | ||
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
Oral cleft |
Cleft of the mouth
|
0000202 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Percent of people who have these symptoms is not available through HPO | ||
Absence of the sacrum | 0010305 | |
Anterior sacral meningocele | 0007293 | |
0000006 | ||
Back pain | 0003418 | |
Constipation | 0002019 | |
Dermoid cyst | 0025247 | |
Headache |
Headaches
|
0002315 |
Hemisacrum | 0009790 | |
0001287 | ||
Meningocele | 0002435 | |
Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 |
Rectal abscess | 0005224 | |
Sacral lipoma | 0012033 | |
Urinary retention | 0000016 |
Cause
Certain conditions in pregnancy may increase the chance to have a baby with CRS. These include maternal diabetes, exposure to retinoic acid, and abnormalities in blood flow. Several
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The main differential diagnosis is sirenomelia (see this term). CRS has also been associated with the VACTERL syndrome (see this term). The Currarino syndrome (see this term) is a form of caudal regression syndrome characterized by the classic triad of presacral mass, sacral bone defect and anorectal malformation in which an autosomal dominant inheritance has been described with mutation or deletion of the HLXB9 gene.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
International Sacral Agenesis/Caudal Regression Association (iSACRA)
101 Cottontail Drive
Lake Frederick, VA 22630
Telephone: +1-703-568-7989
E-mail: [email protected]
Website: https://www.isacra.org/ -
Spina Bifida Association
1600 Wilson Blvd, Suite 800
Arlington, VA 22209
Toll-free: 1-800-621-3141
E-mail: [email protected]
Website: https://www.spinabifidaassociation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on Caudal regression sequence. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Caudal regression sequence. Click on the link to view a sample search on this topic.
References
- Warner T, Scullen TA, Iwanaga J, Loukas M, Bui CJ, Dumont AS, Tubbs RS. Caudal Regression Syndrome-A Review Focusing on Genetic Associations. World Neurosurg. Jun 2020; 138:461-467. https://pubmed.ncbi.nlm.nih.gov/32200015/.
- Kylat RI, Badr M. Caudal Regression Syndrome. Children (Basel). Nov 4, 2020; 7(11):211. https://pubmed.ncbi.nlm.nih.gov/33158301/.
- Kumar Y, Gupta N, Hooda K, Sharma P, Sharma S, Kochar P, Hayashi D. Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. Pol J Radiol. Apr 4, 2017; 82:188-192. https://pubmed.ncbi.nlm.nih.gov/28439323/.
- Vissarionov S, Scroder JE, Kokushin D, Murashko V, Belianchikov S, Kaplan L. Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. Global Spine J. May 2019; 9(3):260-265. https://pubmed.ncbi.nlm.nih.gov/31192092/.
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