Oculocerebrocutaneous syndrome

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

Oculocerebrocutaneous syndrome
Other namesDelleman–Oorthuys syndrome[1]
SpecialtyMedical genetics

Presentation

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The symptoms include:

Genetics

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While the disorder is not fully understood, it is suspected that the gene(s) responsible may lie on the X chromosome.

Diagnosis

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Differential diagnosis

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Epidemiology

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This rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005.

See also

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References

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  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
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