Oculocerebrocutaneous syndrome

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Oculocerebrocutaneous syndrome
Other namesDelleman–Oorthuys syndrome[1]

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

Presentation

These include

Genetics

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

Diagnosis

Differential diagnosis

Epidemiology

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

There is a marked male preponderance.

See also

References

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

External links

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