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Bloom Syndrome

Bloom syndrome is an autosomal recessive genetic disorder characterized by growth deficiency, sun-sensitive rashes on the face, and predisposition to various cancers. Affected individuals experience dwarfism, distinctive facial features, and immunodeficiency leading to frequent infections. The condition is caused by mutations in the BLM gene which results in chromosomal instability and a high rate of sister chromatid exchanges.

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DrMubashir Shaikh
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869 views2 pages

Bloom Syndrome

Bloom syndrome is an autosomal recessive genetic disorder characterized by growth deficiency, sun-sensitive rashes on the face, and predisposition to various cancers. Affected individuals experience dwarfism, distinctive facial features, and immunodeficiency leading to frequent infections. The condition is caused by mutations in the BLM gene which results in chromosomal instability and a high rate of sister chromatid exchanges.

Uploaded by

DrMubashir Shaikh
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Genetic & Dysmorphic Book

ELBABA M.A.
BLOOM SYNDROME; BLM
OMIM 2008
______________________________________________________________________________________________

BLOOM SYNDROME; BLM


Clinical Synopsis
INHERITANCE :
Autosomal recessive
GROWTH :
Height
Average adult male height 151cm
Average adult female height 144cm
Other
Prenatal onset growth retardation
Growth failure
HEAD AND NECK :
Head
Dolichocephaly
Microcephaly
Face
Narrow
Malar hypoplasia
Ears
Prominent ears
Nose
Prominent nose
Teeth
Absent upper lateral incisors
RESPIRATORY :
Airways
Bronchiectasis
Lung
Chronic lung disease
GENITOURINARY :
Internal genitalia, male
Azoospermia
Cryptorchidism
Internal genitalia, female
Reduced fertility in females
SKELETAL :
Hands
______________________________________________________________________________________________
Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
Last update: 9 October 2008

Genetic & Dysmorphic Book


ELBABA M.A.
BLOOM SYNDROME; BLM
OMIM 2008
______________________________________________________________________________________________

Syndactyly
Polydactyly
Fifth finger clinodactyly
SKIN, NAILS, HAIR :
Facial telangiectasia in butterfly midface distribution (exacerbated by sun)
Spotty hypopigmentation
Spotty hyperpigmentation
Cafe-au-lait spots
Hypertrichosis
Photosensitivity
NEUROLOGIC :
Central nervous system
Mild mental retardation in some
Learning disability
VOICE :
High-pitched
ENDOCRINE FEATURES :
Noninsulin-dependent diabetes mellitus
IMMUNOLOGY :
Immunoglobulin deficiency (IgA, IgG, IgM)
Impaired lymphocyte proliferation response to malignancy
NEOPLASIA :
Leukemia
Lymphoma
Adenocarcinoma
Squamous cell carcinoma
Hypersensitivity to chemotherapy
LABORATORY ABNORMALITIES :
High sister chromatid exchange (SCE) rate
SCE normal in heterozygotes
Increased chromosomal breakage
Decreased IgA, IgG, IgM
MISCELLANEOUS :
Life-threatening infections
Predisposition to neoplasia

MOLECULAR BASIS
Caused by mutations in the RecQ proteinlike 3 gene (RECQL3, 604610.0001)
______________________________________________________________________________________________
Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
Last update: 9 October 2008

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