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Oculocerebrocutaneous syndrome

Syndrome characterised by eye, central nervous system and skin malformations

Summary

Syndrome characterised by eye, central nervous system and skin malformations

Field	Value
name	Oculocerebrocutaneous syndrome
synonyms	Delleman–Oorthuys syndrome
field	Medical genetics

Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.

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

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.

References

Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses rare-syndromes

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