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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?
Elite in Cockayne Syndrome Type 1
Elite in Cockayne Syndrome Type 1
Strasbourg, FR 

Vincent Laugel practices in Strasbourg, France. Mr. Laugel is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome Type 1. His top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Cockayne Syndrome Type 2, Pena-Shokeir Syndrome Type 2, and Gastrostomy.

Elite in Cockayne Syndrome Type 1
Elite in Cockayne Syndrome Type 1
Utrecht, UT, NL 

Jan Hoeijmakers practices in Utrecht, Netherlands. Hoeijmakers is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome Type 1. Their top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Xeroderma Pigmentosum, and Pena-Shokeir Syndrome Type 2.

 
 
 
 
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Elite in Cockayne Syndrome Type 1
Elite in Cockayne Syndrome Type 1
Strasbourg, FR 

Nadege Calmels practices in Strasbourg, France. Ms. Calmels is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome Type 1. Her top areas of expertise are Cockayne Syndrome, Cockayne Syndrome Type 1, Cockayne Syndrome Type 2, and Pena-Shokeir Syndrome Type 2.

What are the latest Cockayne Syndrome Type 1 Clinical Trials?
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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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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center