Oculocerebrocutaneous syndrome
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| Oculocerebrocutaneous syndrome | |
|---|---|
| Other names | Delleman–Oorthuys syndrome |
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.
Presentation
These include
- Skin lesions
- Hypoplastic or aplastic skin defects
- Pedunculated, hamartomatous or nodular skin appendages
- Eye lesions
- Cystic microphthalmia
- Brain lesions
-
Forebrain anomalies
- Agenesis of the corpus callosum
- Enlarged lateral ventricles
- Interhemispheric cysts
- Hydrocephalus
- Polymicrogyria
- Periventricular nodular heterotopia
- Mid-hindbrain malformation
- Giant dysplastic tectum
- Absent cerebellar vermis
- Small cerebellar hemispheres
- Large posterior fossa fluid collections
-
Forebrain anomalies
Genetics
This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome.
Diagnosis
Differential diagnosis
- Aicardi syndrome
- Encephalocraniocutaneous lipomatosis
- Focal dermal hypoplasia
- Oculo-auriculo-vertebral spectrum
Epidemiology
This is a rare condition with only 26 cases diagnosed by 2005.
There is a marked male preponderance.