CADDS
Findings
No curated finding names CADDS yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
Definition from the Mondo Disease Ontology (MONDO:0018247), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- CholangitisHPOHP:0030151
- Frequent (30% to 79% of cases)
- Increased circulating very long-chain fatty acid concentrationHPOHP:0033643
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
Show the remaining 5
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
- Short noseHPOHP:0003196
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- VentriculomegalyHPOHP:0002119
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: CADDS
- Also called
- contiguous ABCD1 DXS1357E deletion syndromeZellweger-like contiguous gene deletion syndrome