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Cerebro-Oculo-Facio-Skeletal Syndrome

Cockayne Syndrome


Presentation

  • Congenital muscular dystrophy-like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy:[ncbi.nlm.nih.gov]
  • In this report, we present evidence that two probands related to the Manitoba Aboriginal population group within which COFS syndrome was originally reported have cellular phenotypes indistinguishable from those in CS cells.[ncbi.nlm.nih.gov]
  • Alwadhi and Pankaj Garg Summary points: A seven-day-old with microcephaly with facial dysmorphism is presented.[docguide.org]
  • The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case 2), neither of which has been described in COFS syndrome previously.[ncbi.nlm.nih.gov]
  • All three patients present the cardinal features of COFS syndrome including extreme microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis.[ncbi.nlm.nih.gov]
Feeding Difficulties
  • They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties.[ncbi.nlm.nih.gov]
  • Other features of this disorder include wide-set nipples, failure to thrive, slowed growth (developmental retardation), lack of muscle tone (hypotonia), feeding difficulties and one line in the palm of the hand formed by fusion of the usual two lines[rarediseases.org]
Tremor
  • It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles, and treat tremors Special education for learning difficulties Prevention of[news-medical.net]
  • DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATROFIA SPINODENTATA ATASSIA PERIODICA ATASSIA VESTIBULOCEREBELLARE MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE DEFICIENZA FAMILIARE DI VITAMINA E ATASSIA-TELEANGECTASIA LOUIS-BAR, SINDROME DI SINDROME CON TREMORE[retemalattierare.it]
Learning Difficulties
  • It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles, and treat tremors Special education for learning difficulties Prevention of[news-medical.net]

Treatment

  • Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. Treatment Treatment is supportive and symptomatic.[ninds.nih.gov]
  • Treatment Treatment Options: No treatment is available for this disorder. References[disorders.eyes.arizona.edu]
  • Treatment - Cerebro-oculo-facio-skeletal syndrome Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms. People with this condition often require a feeding tube to obtain adequate nutrition.[checkorphan.org]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[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]

Prognosis

  • 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 - Cerebro-oculo-facio-skeletal syndrome Not supplied. Treatment - Cerebro-oculo-facio-skeletal syndrome Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms.[checkorphan.org]
  • Counseling should include information on the diagnosis and prognosis (antenatal, intrapartum, postnatal, and long term), and information regarding future pregnancies. 65, 66 The fetus diagnosed with PSS has a poor prognosis.[dovepress.com]
  • The prognosis for those with Cockayne syndrome is poor, as death typically occurs by the age of 12.[en.wikipedia.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[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].[myslide.es]
  • Sporadic and familial occurrences have been described subsequently depending on the underlying etiology.[dovepress.com]

Epidemiology

  • 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]
  • ., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675. PubMed CrossRef Google Scholar Verloes, A., C. Elmer, D.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • EMH was responsible for sections on pathophysiology and genetics. MC was responsible for sections on postnatal care and prognosis. The authors report no conflicts of interest in this work. 1. Kowalczyk B, Felus J.[dovepress.com]

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]
  • Symptoms - Cerebro-oculo-facio-skeletal syndrome Causes - Cerebro-oculo-facio-skeletal syndrome Prevention - Cerebro-oculo-facio-skeletal syndrome Not supplied. Diagnosis - Cerebro-oculo-facio-skeletal syndrome Not supplied.[checkorphan.org]
  • […] by changes in the white matter of the brain (known as leukodystrophy) deafness development of visual problems due to retinitis pigmentosa bones show thinning, the back becomes curved and there will be joint contractures (stiffness of the joint that prevents[contact.org.uk]
  • 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]
  • However, a variety of treatments can sometimes prevent further damage and help with complications.[icdlist.com]

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