The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of pelvic girdle bone morphology||90%|
|Aplasia/Hypoplasia of the sacrum||90%|
|Single umbilical artery||90%|
|Skeletal muscle atrophy||90%|
|Vertebral segmentation defect||90%|
|Abnormal localization of kidney||50%|
|Abnormality of female internal genitalia||50%|
|Aplasia/Hypoplasia of the radius||50%|
|Limitation of joint mobility||50%|
|Transposition of the great arteries||50%|
|Abnormality of the ribs||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Anterior sacral meningocele||-|
|Autosomal dominant inheritance||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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I have a 1 year old granddaughter with caudal regression syndrome. She is recently having blue feet - poor circulation we presume. Is this common for those with this syndrome? It comes and goes throughout the day and doesn't seem to affect her at all. See answer
In a non-diabetic mother, what is the most common cause of this condition in a baby? Is there any evidence it can be caused by exposure to medication such as ciproxin? See answer
What is caudal regression syndrome? What kind of therapies can we get for a child with this condition? See answer