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||
|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/underdeveloped sacrum[ more ]
Loss of bowel control
|Decreased muscle mass||0003199|
|Hypoplastic vertebral bodies||
Underdeveloped back bones
|30%-79% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
Abnormal kidney location
Displaced kidney[ more ]
Stiff joints[ more ]
|Reduced tendon reflexes||0001315|
Missing kidney[ more ]
Clubfoot[ more ]
|5%-29% of people have these symptoms|
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia[ more ]
Undescended testis[ more ]
Decreased rib number[ more ]
Cleft of the mouth
Underdeveloped lung[ more ]
Renal failure in adulthood[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Absence of the sacrum||0010305|
|Anterior sacral meningocele||0007293|
Lack of bladder control due to nervous system injury
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.