Living with Familial caudal dysgenesis
A rare genetic condition that affects the development of the lower body before birth.
Understanding Familial caudal dysgenesis
It can cause problems such as having only one umbilical artery or a closed anus. Some people have more serious problems, such as legs fused together. It runs in families and can cause heart or bone problems and facial differences. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes:
- Closed anus (imperforate anus)
- Only one umbilical artery
- Legs fused together in severe cases
- Clubfoot on both sides
- Spine and spinal cord differences
- Heart or bone problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in VANGL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the VANGL1 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: caudal regression; rudd klimek syndrome; rudd-klimek syndrome
Patient organizations
- Pull-thru NetworkFamilial caudal dysgenesis · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial caudal dysgenesis.
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