Cockayne syndrome is a genetic disease characterized by impairment of DNA repair mechanisms, premature ageing, cachexia and kidney dysfunction.
Individuals who are affected with Cockayne syndrome I typically have progressive neurologic degeneration with death occurring by the second or third decade of life, whereas patients with Cockayne syndrome II typically die by age 6-7 years.
Cockayne syndrome, first described in 1936 by Dr. Cockayne, is a rare genetic disorder, mainly characterized by growth disorders, intellectual deficit, neuromotor difficulties, and impaired vision and hearing. The children look cachectic with a prematurely aged face. There are different types of the syndrome.
There is no cure for Cockayne syndrome at this time, and treatment of the syndrome is focused on managing symptoms and complications. However, there are several UMass Chan labs, including the Sena-Esteves Lab and the Flotte Lab, that are studying gene therapy treatment for genetic diseases that affect children.
Cause of death in patients with CS is variable. The leading cause of death is respiratory infection. CS, like xeroderma pigmentosum (XP) and trichothiodystrophy, is a nucleotide excision repair disorder. In contrast to XP, skin cancers on sun-exposed areas are not observed in patients with CS.
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 .
Medical Care
Various management strategies include the following: Physical therapy - Helps to prevent contractures and maintain ambulation. Feeding therapy - Including consideration of gastrostomy tube for failure to thrive. Management of hearing loss - Ie, hearing aids or other devices, if necessary.
Cockayne syndrome is a rare disease, which occurs in about 1 in 500,000 babies. Aesthetically the babies' symptoms include smaller-than-usual heads, growth deficiencies, sunken eyes and looking prematurely aged. They also are extremely sensitive to sunlight and develop sunburn very fast.
Conclusion: Reliable prenatal diagnosis of the Cockayne syndrome can be made by the demonstration of a strongly reduced recovery of DNA-synthesis in UV-irradiated cultured chorionic villus cells or amniocytes.
Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth. The average lifespan for children with type B is up to 7 years of age.
Genetic counseling.
Cockayne syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Two of the hallmarks of Cockayne's syndrome (CS) are the hypersensitivity of cells to UV light and the lack of recovery of the ability to synthesize RNA following exposure of cells to UV light, in spite of the normal repair capacity at the overall genome level.
Abstract. Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide excision repair (NER) pathway, which repairs DNA damage from UV exposure.
The life expectancy for a newborn diagnosed with CHARGE syndrome varies based on the severity of their symptoms. Infants with severe symptoms have a high mortality rate within the first five years of life. For children who have mild symptoms, their lifespan could be normal with lifelong, supportive treatment.
RPI Deficiency
This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body.
The Share and Care Cockayne Syndrome Network, Inc. (SCCSN) is a support group providing information to families and professionals with an interest in Cockayne syndrome (CS). Cockayne syndrome is a rare form of dwarfism. It is genetic in that a recessive gene from each parent is necessary for a child to have CS.
Cockayne syndrome A (CSA; 216400) is caused by mutation in the ERCC8 gene (609412) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene (Licht et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see 216400.
The common problem in patients with Cockayne's syndrome is a failure to repair oxidation‐induced damage to DNA bases. Patients with Cockayne's syndrome suffer from defects in the “transcription‐coupled repair” (TRP). Cockayne'syndrome can arise from mutations in one of five genes.
Cockayne syndrome (CS) is a rare, autosomal-recessive disorder that was first described in 1936 by Edward Cockayne.
The lack of elevated UV-induced mutagenesis in CS cells reveals that their TCR deficiency, although increasing cytotoxicity, is not mutagenic. Therefore the absence of cancer in CS patients results from the absence of UV-induced mutagenesis rather than from enhanced lethality.
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time. There are more than 6,800 rare diseases.
No. Down syndrome is a lifelong condition, and there isn't a cure. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise.
Cockayne Syndrome (CS) is an autosomal recessive neurodegenerative disorder characterised by progressive growth failure, microcephaly, mental retardation, retinal degeneration, sensorineural deafness, and photosensitivity. CS has a variable rate of progression.
A disorder caused by mutations (changes) in certain genes or chromosomes that are passed down from parent to child. Hereditary syndromes may be inherited from one or both parents, and several close family members (such as a mother, daughter, and sister) may have the same disorder.