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Learn About Cockayne Syndrome Type 2

What is the definition of Cockayne Syndrome Type 2?
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 2?
  • Cockayne syndrome type II
  • Cockayne syndrome type 2
  • Cockayne syndrome type 2
  • Cockayne syndrome type B
Who are the top Cockayne Syndrome Type 2 Local Doctors?
Advanced in Cockayne Syndrome Type 2
Advanced in Cockayne Syndrome Type 2

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Cockayne Syndrome Type 2. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Philip L. Goolsby
Experienced in Cockayne Syndrome Type 2
Family Medicine
Experienced in Cockayne Syndrome Type 2
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Experience:
44+ years
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 2. His top areas of expertise are Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Cockayne Syndrome Type 2
Family Medicine
Experienced in Cockayne Syndrome Type 2
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 2. His top areas of expertise are Cerebral Palsy, Nijmegen Breakage Syndrome, Ruvalcaba Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

What are the latest Cockayne Syndrome Type 2 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