Delleman Oorthuys Syndrome

Common Name(s)

Delleman Oorthuys Syndrome

Delleman-Oorthuys syndrome, also known as oculocerebrocutaneous syndrome (OCCS) or Leichtman-Wood-Rohn syndrome, is a rare set of birth defects, or a syndrome. This syndrome is characterized by intellectual disabilities, and eye, central nervous system (CNS), and skin malformations or defects. Signs and symptoms may include: orbital cysts (pockets of gas/liquid in the eye socket), muscle hamartomas (noncancerous tumors), and seizures. This condition has been seen in 35 people, and is more common in males. Treatment varies on a case-by-case basis, for example, doctors can seek help from various therapists and community services to provide support and care for families affected by intellectual disability, or surgery may be required to remove orbital cysts. Delleman-oorthuys syndrome has been fatal in 14% of observed cases.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Delleman Oorthuys Syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Delleman Oorthuys Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Delleman Oorthuys syndrome.
 

Author(s): Syed Wajahat A Rizvi, Mohammed Azfar Siddiqui, Adeeb A Khan, Ziya Siddiqui

Journal: Middle East Afr J Ophthalmol. ;22(1):122-4.

 

Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, ...

Last Updated: 27 Jan 2015

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Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'.
 

Author(s): Vipul Arora, Usha R Kim, Hadi M Khazei

Journal: Indian J Ophthalmol. ;57(5):387-9.

 

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations ...

Last Updated: 24 Aug 2009

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Reviews from the PubMed Database

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The terms "Delleman Oorthuys Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.