Bloom syndrome (Q56897): Difference between revisions
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A síndrome de Bloom é um transtorno autossômico recessivo raro pertencente a um grupo de síndromes de quebra cromossômica e é caracterizada por acentuada instabilidade genética, incluindo um alto nível de trocas de cromátides irmãs, associada a uma predisposição muito aumentada a uma ampla gama de cânceres comumente afetando a população geral. As características clínicas constantes da SB são o retardo de crescimento pré e pós-natal proporcional e a predisposição ao câncer. As características clínicas adicionais incluem dolicocefalia, eritema telangiectásico facial sensível ao sol, manchas irregulares de hiper e hipopigmentação da pele e imunodeficiência moderada a grave manifestada por infecções recorrentes dos tratos respiratório e gastrointestinal. | |||
| description / en | description / en | ||
Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal breakage syndromes, and is characterised by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. Additional clinical features include dolichocephaly, facial sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory tract and gastrointestinal infections. | |||
Revision as of 04:35, 14 August 2026
Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal breakage syndromes, and is characterised by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. Additional clinical features include dolichocephaly, facial sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory tract and gastrointestinal infections.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1838213890 |
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| English | Bloom syndrome |
Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal breakage syndromes, and is characterised by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. Additional clinical features include dolichocephaly, facial sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory tract and gastrointestinal infections. |
