Oculocerebrocutaneous Syndrome
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Oculocerebrocutaneous Syndrome Overview

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Learn About Oculocerebrocutaneous Syndrome

What is the definition of Oculocerebrocutaneous Syndrome?
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males. Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain's hemispheres (corpus callosum). Diagnosis is confirmed on the basis of specific MRI findings. In some affected individuals, the eye, skin, and brain findings involve only one side of the body. In these cases, the left side is involved twice as often as the right side. Additional findings may include rib and vertebral anomalies and craniofacial anomalies. Developmental delay and intellectual disability may be present and can vary from mild to profound. Approximately 50% of affected individuals have seizures. The exact cause of OCC syndrome is not known. In most cases, the affected individual is the first person in the family to have the disorder.
What are the alternative names for Oculocerebrocutaneous Syndrome?
  • Oculocerebrocutaneous syndrome
  • Delleman Oorthuys syndrome
  • Delleman syndrome
  • OCC Syndrome
  • OCCS
  • Oculo-cerebro-cutaneous syndrome
  • Orbital cyst with cerebral and focal dermal malformations
Who are the top Oculocerebrocutaneous Syndrome Local Doctors?
Advanced in Oculocerebrocutaneous Syndrome
Dr. Christopher C. Lo
Ophthalmology
Advanced in Oculocerebrocutaneous Syndrome
Dr. Christopher C. Lo
Ophthalmology
Referral may be required
50 Central Court, 
Pasadena, CA 
626-564-0004
Languages Spoken:
English
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Accepting New Patients

Christopher Lo is an Ophthalmologist practicing medicine in Pasadena, California. Dr. Lo is rated as an Advanced provider by MediFind in the treatment of Oculocerebrocutaneous Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Entropion, Blocked Tear Duct, Oculocerebrocutaneous Syndrome, and Facial Paralysis. Dr. Lo is currently accepting new patients.

Distinguished in Oculocerebrocutaneous Syndrome
Distinguished in Oculocerebrocutaneous Syndrome
Referral may be required
Ibadan, OY, NG 

Oluyemi Fasina practices practicing medicine in Ibadan, Nigeria. Mr. Fasina is rated as a Distinguished expert by MediFind in the treatment of Oculocerebrocutaneous Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Oculocerebrocutaneous Syndrome, Chemosis, Subconjunctival Hemorrhage, and Rhabdomyosarcoma.

 
 
 
 
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Distinguished in Oculocerebrocutaneous Syndrome
Distinguished in Oculocerebrocutaneous Syndrome
Referral may be required
170 Elizabeth Street, 
Toronto, ON, CA 

Susan Blaser practices practicing medicine in Toronto, Canada. Ms. Blaser is rated as a Distinguished expert by MediFind in the treatment of Oculocerebrocutaneous Syndrome. She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Orbital Cellulitis, Cerebelloparenchymal Disorder 3, Oculocerebrocutaneous Syndrome, and X-Linked Chondrodysplasia Punctata 2.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center