Oculocerebrocutaneous syndrome
Syndrome characterised by eye, central nervous system and skin malformations From Wikipedia, the free encyclopedia
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.[1]
| Oculocerebrocutaneous syndrome | |
|---|---|
| Other names | Delleman–Oorthuys syndrome[1] |
| Specialty | Medical genetics |
Presentation
The symptoms 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
While the disorder is not fully understood, it is suspected that the gene(s) responsible may lie on the X chromosome.
Diagnosis
Differential diagnosis
Epidemiology
This rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005.
See also
References
External links
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