Edit concept Question Editor Create issue ticket

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Cockayne Syndrome


Presentation

  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Acronym COFS1 Synonyms COFS syndrome Pena-Shokeir syndrome type 2 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • COFS syndrome affects both females and males from all ethnic groups and symptoms are present at birth. This is a very rare syndrome and the exact number of cases in the UK is unknown.[medic8.com]
Weakness
  • Tremors and weakness contribute as well. The skin is sensitive to UV radiation in some but not all patients. However, the frequency of skin cancer is not increased. Endogenous temperature regulation may be a problem.[disorders.eyes.arizona.edu]
Beak Nose
  • CS patients generally acquire a characteristic physical appearance of premature aging: loss of adipose tissue with resulting sunken eyes and beaked nose, prominent ears, thinning of the skin and hair, stooped posture, dwarfism, hypogonadism, mental retardation[pnas.org]
Beaked Nose
  • CS patients generally acquire a characteristic physical appearance of premature aging: loss of adipose tissue with resulting sunken eyes and beaked nose, prominent ears, thinning of the skin and hair, stooped posture, dwarfism, hypogonadism, mental retardation[pnas.org]

Treatment

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Rigel, Robinson, Ross, Friedman, Cockerell, Lim, Stockfleth, and Kirkwood, is your complete, multimedia guide to early diagnosis and effective medical and surgical treatment of melanoma and other skin cancers.[books.google.com]
  • Diagnosis and treatment The condition is diagnosed by the presence of the typical physical characteristics, and the unusually slow growth. Confirmation is by molecular genetic testing.[news-medical.net]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment usually involves physical therapy and minor surgeries to the affected organs, like cataract removal.[checkorphan.org]

Prognosis

  • Patients with type II present with a more severe prognosis, whereas patients with type III live into adulthood. Prognosis - Cockayne syndrome Not supplied.[checkorphan.org]
  • Prognosis COFS syndrome is a severe disease leading to death in the first years of live, particularly by respiratory infections. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis COFS is a fatal disease. Most children do not live beyond five years. x Prognosis COFS is a fatal disease. Most children do not live beyond five years. Prognosis COFS is a fatal disease. Most children do not live beyond five years.[ninds.nih.gov]
  • Prognosis The prognosis varies with the severity of the genetic disorder, the success in avoiding UV light and vigilance of screening.[patient.info]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology The identified mutations mainly concern the ERCC6/CSB gene. One case has been linked to the ERCC1 gene and particular clinical forms with major photosensitivity have been linked with the ERCC2/XPD and ERCC5/XPG genes.[orpha.net]
  • Numerous etiologies are responsible for patho- logic intracranial calcifications [7, 10]. Tumors, some cerebral inflammatory diseases, vascular abnormali- ties and old intracranial hemorrhages are the most usual etiologic factors [7, 10].[docslide.com.br]
  • Myorhythmia: Phenomenology, Etiology, and Treatment. Movement Disorders 2015;30(2):171–179. doi:10.1002/mds.26093. 7.0 7.1 Fenollar, F., Puéchal, X., Raoult, D. January 2007. "Whipple's disease".[eyewiki.aao.org]

Epidemiology

  • Summary Epidemiology The exact incidence is unknown.[orpha.net]
  • Neto RM, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10:5 CrossRef Google Scholar 26. Opitz JM (1982) The developmental field concept in clinical genetics.[link.springer.com]
  • Relevant External Links for ERCC6 Genetic Association Database (GAD) ERCC6 Human Genome Epidemiology (HuGE) Navigator ERCC6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ERCC6 No data available for Genatlas for ERCC6 Gene Identical mutations[genecards.org]
  • Epidemiology [ 1 ] XP is very rare but appears to be present throughout the world and in every ethnic group. There are currently approximately 100 diagnosed cases in the UK. The incidence in the USA is estimated as 1 in 1 million.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • It provides essential clinical and pathophysiological information and discusses the pathogenesis of abnormalities as a basis for appropriate methods of investigation.[books.google.ro]

Prevention

  • […] sunburn by use of sunglasses and sunscreen creams, and proper protective clothing Treatment of eye and hearing problems as needed Preventive care Physical therapy to prevent loss of ambulation Ensuring a safe environment to prevent falls and further[news-medical.net]
  • Prevention - Cockayne syndrome Not supplied.[checkorphan.org]
  • Oral isotretinoin may prevent new neoplasms.[patient.info]
  • Genetic counseling for the parents is recommended, as the disorder has a 25% chance of being passed to any future children, and prenatal testing is also a possibility. [3] Another important aspect is prevention of recurrence of CS in other siblings.[en.wikipedia.org]
  • The goals of this research include finding ways to prevent, treat, and cure these disorders. Information from the National Library of Medicine’s MedlinePlus Degenerative Nerve Diseases[ninds.nih.gov]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!