oculocerebrocutaneous syndrome
MONDO:0008108Mondo
Findings
No curated finding names oculocerebrocutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.
Definition from the Mondo Disease Ontology (MONDO:0008108), read 2026-09-29. CC BY 4.0.
Features
40 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.
- Abnormal cerebellar vermis morphologyHPOHP:0002334
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- PolymicrogyriaHPOHP:0002126
- Very frequent (80% to 99% of cases)
- Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Skin tagsHPOHP:0010609
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
Show the remaining 28
- Calvarial skull defectHPOHP:0001362
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Eyelid colobomaHPOHP:0000625
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: oculocerebrocutaneous syndrome
- Also called
- Delleman syndromeDelleman-Oorthuys syndromeLeichtman-Wood-Rohn syndromeOCCSorbital cyst with cerebral and focal dermal malformations