Cockayne Syndrome (Subscribe)  

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...

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...

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...

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...

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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,...