Bloom syndrome (Q56897)
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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. |
