Living with CADDS
A rare X-linked condition affecting the brain, liver, hearing, and growth from before birth.
Understanding CADDS
It involves very slow growth before birth, poor weight gain, very low muscle tone, and severe delays in development. Other findings are high levels of certain fats in the blood (very long chain fatty acids), poor bile flow in newborns (cholestasis) with liver problems, seizures, eye and hearing differences, and brain differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe delays in development
- Slow growth before birth
- Seizures
- Hearing loss (sensorineural)
- Poor bile flow (cholestasis)
- Changes in the brain's white matter
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- 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 United Leukodystrophy Foundation
- 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 genes cause this condition. It is inherited in an X-linked way.
Also known as: contiguous abcd1 dxs1357e deletion syndrome; contiguous abcd1/dxs1375e deletion syndrome; zellweger-like contiguous gene deletion syndrome
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with CADDS.
Explore research for CADDS
Explore actively recruiting CADDS studies with HealthSpark.
Find actively recruiting studies for CADDS 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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