Disease Information for Bloom syndrome

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facial Malar flush/rash
Facial telangiectatic rash/butterfly distribution
Facies particular
Lupus-like butterfly rash,face
Narrow face/sign
Sun exposed areas/face, arms/involved
Red/erythema skin discoloration
Facial erythema
Facial rash
Increased pigmentation/tanning/hyperpigmented
Photosensitivity/Sunsensitive skin
Spider nevi/angiomata/Abdominal sign
Spotty skin pigmentation
Telangiectasias hand/forearms
Telangiectasias in Children
Telangiectasias, skin
Mental Deficiency Child
Recurrent chest infections/bronchitis/sign
Dysmorphic dwarfism/short stature
Skull/tall/dolichiocephalic deformity/sign
High-pitched voice
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Pancreatitis Kids Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Jewish population
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DEB (Diepoxybutane) chromosome stability test abnormal (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Acute leukemia
Bloom syndrome
Childhood malignancy
Diabetes mellitus
Early menopause
Growth retardation/failure
Infertility/sterility male
Limb deformities/anomalies
Lymphoblastic leukemia/acute
Lymphoma/Malignant lymphoma
Mental retardation
Pancreatitis, acute
Photosensitivity dermatitis
Skull deformities
Diabetes mellitus/non-insulin dep/type II
Hand anomalies
Disease Mechanism & Classification
CLASS/Systemic/no comment (category)
Pathophysiology/Chromosomes fragile
Pathophysiology/Gene locus 15q26.1
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Oncogene BLM/Locus 15q
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Chromosome breakage syndrome (ex)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Pre-Malignant condition (ex)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Dystostosis/craniofacial (ex)
BLM, Bloom, Bloom Syndrome, Bloom syndrome (disorder), Bloom Torre Machacek Syndrome, Bloom's syndrome, BLS, BS, BS Bloom syndrome, Congenital Telangiectatic Erythema Syndrome, Syndrome Bloom, Syndrome Bloom Torre Machacek, Synonym/Bloom-Torre-Mackacek syndrome, Synonym/BS (Bloom's Syndrome), Synonym/Congenital telangiectatic erythema, Synonym/Dwarfism, Levi's type variant, Synonym/Short stature and facial telangectasia, Synonym/Short stature, Telangectasia erythema face
Drug Therapy - Indication
RX/No treatment
Other Treatments
TX/Genetic counselling

An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities;-----------------------------------------------Bloom Syndrome; BS;

Bloom-Torre-Mackacek Syndrome; Dwarfism, Levi"s Type

Short Stature and Facial Telangiectasis; Short Stature, Telangiectatic Erythema of the Face; Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma; Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements; It is suspected that there is a link between the frequency of chromosomal breaks and the increased propensity toward malignancies;

Bloom syndrome is inherited as an autosomal recessive genetic trait; It is often included among the Jewish genetic diseases-----------------[NORD 2005]---------------------------Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types; The New York dermatologist David Bloom first described the syndrome in 1954; Pathophysiology: The syndrome is caused by a mutation in the gene designated BLM, traced to band 15q26-1; The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability; Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition; The frequency of parental consanguinity is much greater than in the general population; Internationally: The disease is more common in Ashkenazi Jews but has been reported in Japan and other countries ; Mortality/Morbidity: Early diagnosis of leukemia is, at present, not known to improve the chances of curative therapy; Frequent hematologic examinations in children is not advised for fear of untoward psychologic effects; Allogeneic marrow grafting has not been performed in Bloom syndrome patients; Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span; Bloom syndrome patients who become pregnant are at high risk for premature delivery; Intelligence is usually normal, although mild deficiency has occurred in a few affected persons; Diabetes occurs in approximately 10% of individuals with Bloom syndrome

--------------[emedicine 2005]-----------


External Links Related to Bloom syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)