Cockayne Syndrome Type 2
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Cockayne Syndrome Type 2 Overview

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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
Dr. Alvaro H. Russi
Pediatrics
Advanced in Cockayne Syndrome Type 2
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. 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.

Donald J. Weaver
Experienced in Cockayne Syndrome Type 2
Dr. Donald J. Weaver
Pediatric Nephrology
Experienced in Cockayne Syndrome Type 2
Dr. Donald J. Weaver
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
704-381-8800
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 2. His top areas of expertise are Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is currently accepting new patients.

 
 
 
 
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Sunil Pauwaa
Experienced in Cockayne Syndrome Type 2
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology
Experienced in Cockayne Syndrome Type 2
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology

Advocate Heart Institute

10837 S Cicero Ave, Ste 200, 
Oak Lawn, IL 
708-636-7575
Languages Spoken:
English
See accepted insurances

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Cockayne Syndrome Type 2. His top areas of expertise are Heart Failure, Pulmonary Veno-Occlusive Disease, Pulmonary Hypertension, Hypertensive Heart Disease, and Heart Transplant.

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What are the latest Cockayne Syndrome Type 2 Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

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
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

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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Who are the sources who wrote this article ?

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