Living with VACTERL with hydrocephalus
A rare condition present at birth with differences in the spine, bowel, heart, kidneys, and limbs, plus extra fluid in the brain.
Understanding VACTERL with hydrocephalus
VACTERL stands for spine (vertebral), anus, heart, windpipe and food pipe connection, kidney, and limb differences. Hydrocephalus is a buildup of fluid in the brain. GARD says this pairing is rare and may differ from VACTERL association in general.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fluid in the brain (hydrocephalus)
- Missing or irregular spine bones (hemivertebrae)
- Closed anus (anal atresia)
- Food pipe not fully formed (esophageal atresia)
- Heart and kidney differences
- Intellectual disability
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 brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FANCB 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
- 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
GARD lists the FANCB gene and says this may follow an autosomal recessive pattern in some people. It also lists X-linked inheritance.
Also known as: sujansky-leonard syndrome; vacterl-h
Patient organizations
- Pull-thru NetworkVACTERL with hydrocephalus · United States
You are more than your diagnosis
Perspectives from people navigating life with VACTERL with hydrocephalus.
Explore research for VACTERL with hydrocephalus
Explore actively recruiting VACTERL with hydrocephalus studies with HealthSpark.
Find actively recruiting studies for VACTERL with hydrocephalus with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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