Oculocerebrocutaneous syndrome
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Clinical
Features
Variants
Images
Differential
Histology
Features
Variants
Images
Differential
Pathophysiology
Epidemiology
Associations
Workup
Labs
Imaging
Diagnostic criteria
Management
Treatment
Monitoring
Counseling
Other considerations
| Oculocerebrocutaneous syndrome | |
|---|---|
| Other names | Delleman–Oorthuys syndrome[1] |
| Specialty | Medical genetics |
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.[1]
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
- Aicardi syndrome
- Encephalocraniocutaneous lipomatosis
- Focal dermal hypoplasia
- Oculo-auriculo-vertebral spectrum
Epidemiology
This rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005.
See also
References
- ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
