http://www.orthopaedicweblinks.com A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS OCOSH Code C05.116.099.343.250_bd_dbd_dwf.cs en-us Thu Feb 21 2008 22:43:23 GMT Copyright 2005 OWL Inc. orthopaedicweblinks@gmail.com (Christian Veillette) orthopaedicweblinks@gmail.com (OWL Inc.) http://www.orthopaedicweblinks.com/Detailed/10160.html Synonym(s): COFS, Pena Shokeir II Syndrome, Cockayne Syndrome Type II What is Cerebro-Oculo-Facio-Skeletal Syndrome? Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10160 http://www.orthopaedicweblinks.com/Detailed/10163.html Cockayne syndrome may cause or feature - Miscellaneous syndromes Leucodystrophy Symptoms and Signs Ataxia Microcephaly Peripheral neuropathy Photosensitivity of skin Premature aging Retinal pathology Sensorineural hearing loss Short stature X-ray abnormalities Intracranial calcification Psychiatric conditions Learning disability may be associated with -Congenital conditions Tricho-thiodystrophy Xeroderma pigmentosum Belongs in the category of Autosomal recessive conditions Cockayne syndrome: Definition(s) via UMLS.....Code translations and terms via UMLS. "A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms." Source: Medical Subject Headings, 2006_2006_02_06 "A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms." Source: Medical Subject Headings, 2006_2006_02_06 Cockayne syndrome: specific web sites. 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10163 http://www.orthopaedicweblinks.com/Detailed/10164.html Disease characteristics. Cockayne syndrome (referred to as CS throughout this GeneReview) spans a spectrum that includes: CS type I, the "classic" form; CS type II, a more severe form with symptoms present at birth [also known as cerebro-oculo-facial syndrome (COFS) or Pena-Shokeir syndrome type II]; CS type III, a milder form; and xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II, or "connatal" CS, is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism; XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10164 Edward G Neilan, MD, PhD http://www.orthopaedicweblinks.com/Detailed/10162.html Cockayne syndrome Edward Alfred Cockayne (18801956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature, and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of 1 year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer. After exposure to UV radiation (found in sunlight), people with Cockayne syndrome can no longer perform a certain type of DNA repair, known as "transcription-coupled repair." This type of DNA repair occurs "on the fly" right as the DNA that codes for proteins is being replicated. Two genes defective in Cockayne syndrome, CSA and CSB, have been identified so far. The CSA gene is found on chromosme 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins. Escherichia coli, a bacterium, also undergoes transcription-coupled repair, and a yeast counterpart of the CSB gene has also recently been discovered. These similar mechanisms to the one found in humans are invaluable for studying the molecular processes involved in transcription-coupled repair because powerful molecular genetics techniques can be used. A better understanding of the mechanisms involved will help unravel the pathogenesis of disease and may identify potential drug targets. 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10162 http://www.orthopaedicweblinks.com/Detailed/10161.html Parent Support Group 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10161 http://www.orthopaedicweblinks.com/Detailed/10159.html DESCRIPTION Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992). 2006-11-18 22:43:23 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10159