Cockayne syndrome (Q56856): Difference between revisions
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Síndrome de Cockayne (SC) é uma condição multissistêmica caracterizada por baixa estatura, aparência facial característica, envelhecimento prematuro, fotossensibilidade, disfunção neurológica progressiva e déficit intelectual. A incidência anual de SC é próxima a 1/200.000 em países europeus. A gravidade da doença e a idade de apresentação são variáveis. Na SC clássica do tipo I, os primeiros sintomas geralmente aparecem durante o primeiro ano de vida. Casos de início precoce com sintomas mais graves (tipo II) e casos de início tardio com sintomas mais leves (tipo III) também foram descritos. A SC pertence à família dos transtornos relacionadas a reparação por excisão de nucleótideos (NER). | |||
| description / en | description / en | ||
Cockayne syndrome (CS) is a multisystem condition characterised by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders. | |||
Revision as of 04:33, 14 August 2026
Cockayne syndrome (CS) is a multisystem condition characterised by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1206275070 |
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| English | Cockayne syndrome |
Cockayne syndrome (CS) is a multisystem condition characterised by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders. |
