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Learn About Cockayne Syndrome Type 1

What is the definition of Cockayne Syndrome Type 1?
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. Inheritance is autosomal recessive. Those with type 3 live into middle adulthood.
What are the alternative names for Cockayne Syndrome Type 1?
  • Cockayne syndrome type I
  • Cockayne syndrome classic form
  • Cockayne syndrome classical
  • Cockayne syndrome type A
Who are the top Cockayne Syndrome Type 1 Local Doctors?
Experienced in Cockayne Syndrome Type 1
Family Medicine
Experienced in Cockayne Syndrome Type 1
Family Medicine
6101 S County Line Rd, 
Burr Ridge, IL 
 (1.9 mi)
Languages Spoken:
English
Accepting New Patients

Robert Duch is a Family Medicine provider in Burr Ridge, Illinois. Dr. Duch and is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 1. His top areas of expertise are Dementia, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Duch is currently accepting new patients.

Experienced in Cockayne Syndrome Type 1
Internal Medicine
Experienced in Cockayne Syndrome Type 1
Internal Medicine
1200 S York Rd, Suite 3250, 
Elmhurst, IL 
 (4.4 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Charles Giger is an Internal Medicine provider in Elmhurst, Illinois. Dr. Giger and is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 1. His top areas of expertise are Sitosterolemia, High Cholesterol, Urinary Tract Infection in Children, Endoscopy, and Ureteroscopy. Dr. Giger is currently accepting new patients.

 
 
 
 
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Experienced in Cockayne Syndrome Type 1
Experienced in Cockayne Syndrome Type 1

Northwestern Medical Faculty Foundation

675 N Saint Clair St, 
Chicago, IL 
 (17.5 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Lisa Wilsbacher is a Cardiologist in Chicago, Illinois. Dr. Wilsbacher and is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 1. Her top areas of expertise are Arachnodactyly, Marfan Syndrome, Cardiomyopathy, Cardiac Ablation, and Pacemaker Implantation. Dr. Wilsbacher is currently accepting new patients.

What are the latest Cockayne Syndrome Type 1 Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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