Oculocerebrocutaneous syndrome

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Oculocerebrocutaneous syndrome
Other names: Delleman–Oorthuys syndrome[1]
Individual with Oculocerebrocutaneous syndrome- One-month with congential cystic mass replacing the eyeball on left side with accessory periocular cystic appendages.

Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.[1]

Symptoms and signs

These include


This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome.


Differential diagnosis


Oculocerebrocutaneous syndrome treatment/management involve orbital cyst removal via aspiration/dissection from periocular region. Sclerosing therapy can be used for this condition[2]


This is a rare condition with only 26 cases diagnosed by 2005.

There is a marked male preponderance.

See also


  1. 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.
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Oculocerebrocutaneous syndrome". www.orpha.net. Archived from the original on 5 September 2021. Retrieved 4 September 2021.

External links