Jump to content

Oculocerebrocutaneous syndrome

From Wikipedia, the free encyclopedia
Oculocerebrocutaneous syndrome
Other namesDelleman–Oorthuys syndrome[1]
SpecialtyMedical genetics

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

Presentation

[edit]

The symptoms include:

Genetics

[edit]

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

Diagnosis

[edit]

Differential diagnosis

[edit]

Epidemiology

[edit]

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

See also

[edit]

References

[edit]
  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.
[edit]