Cockayne Syndrome Overview
Learn About Cockayne Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as CSB) or the ERCC8 gene (also known as CSA). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As errors build up in DNA, cells malfunction and eventually die. The faulty DNA repair underlies photosensitivity in affected individuals, and researchers suspect that it also contributes to the other features of Cockayne syndrome. It is unclear how ERCC6 or ERCC8 gene mutations cause all of the varied features of this condition.
Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in the United States and Europe.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Vincent Laugel practices in Strasbourg, France. Laugel and is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome. His top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Pena-Shokeir Syndrome Type 2, Cockayne Syndrome Type 2, and Gastrostomy.
Nadege Calmels practices in Strasbourg, France. Calmels and is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome. Her top areas of expertise are Cockayne Syndrome, Cockayne Syndrome Type 1, Cockayne Syndrome Type 2, and Pena-Shokeir Syndrome Type 2.
Tomoo Ogi practices in Nagoya, Japan. Ogi and is rated as an Elite expert by MediFind in the treatment of Cockayne Syndrome. Their top areas of expertise are Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, and Cockayne Syndrome Type 1.
Summary: The purpose of this study is to evaluate how Aztreonam (ATM) and Avibactam (AVI) are processed in pediatric participants. This study also aims to understand participant safety and effects in pediatric participants. The study is seeking participants who are: * 9 months to less than 18 years of age * Hospitalized * Suspected/known to have a gram-negative infection * Receiving intravenous (iv, given ...
Summary: This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
Published Date: June 01, 2016
Published By: National Institutes of Health