Oculocerebrocutaneous Syndrome
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Oculocerebrocutaneous Syndrome Overview

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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?
Distinguished in Oculocerebrocutaneous Syndrome
Susan I. Blaser
Distinguished in Oculocerebrocutaneous Syndrome
Susan I. Blaser
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 26 other conditions, according to our data. Her clinical expertise encompasses Oculocerebrocutaneous Syndrome, Orbital Cellulitis, Cerebelloparenchymal Disorder 3, X-Linked Chondrodysplasia Punctata 2, and Glossectomy.

Experienced in Oculocerebrocutaneous Syndrome
Dr. Mohammed Siddiqui
Radiology
Experienced in Oculocerebrocutaneous Syndrome
Dr. Mohammed Siddiqui
Radiology
164 Professional Parkway, 
Troy, MO 
636-528-0392
Experience:
18+ years
Languages Spoken:
English
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Mohammed Siddiqui is a Radiologist practicing medicine in Troy, Missouri. He has been practicing medicine for over 18 years. Dr. Siddiqui is rated as an Experienced provider by MediFind in the treatment of Oculocerebrocutaneous Syndrome. His clinical expertise encompasses Pancreatic Adenoma, Gas Bloat Syndrome, Pleural Effusion, Pleurisy, and Gallbladder Removal. Dr. Siddiqui is board certified in American Board Of Radiology/Diagnostic Radiology , Drug Enforcement Administration , Missouri Dept Of Health/Narcotics&Dangerous Drugs , and Missouri State Board Of Registration.

 
 
 
 
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Advanced in Oculocerebrocutaneous Syndrome
Ute Moog
Advanced in Oculocerebrocutaneous Syndrome
Ute Moog
Heidelberg, BW, DE 

Ute Moog practices practicing medicine in Heidelberg, Germany. Ms. Moog is rated as an Advanced expert by MediFind in the treatment of Oculocerebrocutaneous Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Toriello-Carey Syndrome, Oculocerebrocutaneous Syndrome, SHORT Syndrome, and Mosaicism.

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