Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face. More detailed information about the symptoms, causes, and treatments of Bloom Syndrome is available below.
See full list of 16 symptoms of Bloom Syndrome
Home medical testing related to Bloom Syndrome:
Review possible medical complications related to Bloom Syndrome:
Read more about causes of Bloom Syndrome.
Research the causes of these diseases that are similar to, or related to, Bloom Syndrome:
See full list of 21 occasional symptoms of Bloom Syndrome
Commonly undiagnosed diseases in related medical categories:
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although the most...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood...read more »
Psoriasis often undiagnosed cause of skin symptoms in children: Children who suffer from the skin disorder called psoriasis can often go undiagnosed. The main problem is that...read more »
Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the...read more »
Read more about Misdiagnosis and Bloom Syndrome
Research related physicians and medical specialists:
Other doctor, physician and specialist research services:
Research quality ratings and patient safety measures for medical facilities in specialties related to Bloom Syndrome:
Hospital & Clinic quality ratings »
Choosing the Best Hospital: More general information, not necessarily in relation to Bloom Syndrome, on hospital performance and surgical care quality:
Medical research articles related to Bloom Syndrome include:
Click here to find more evidence-based articles on the TRIP Database
More Bloom Syndrome animations & videos
Visit our research pages for current research about Bloom Syndrome treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Bloom Syndrome include:
Read more about Clinical Trials for Bloom Syndrome
Types of Bloom Syndrome
Read about other experiences, ask a question about Bloom Syndrome, or answer someone else's question, on our message boards:
Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80) - (Source - Diseases Database)
Bloom Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Bloom Syndrome, or a subtype of Bloom Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Bloom Syndrome as a "rare disease".
Source - Orphanet
Tools & Services:
Medical Articles:
Search Specialists by State and City
By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.
Copyright © 2011 Health Grades Inc. All rights reserved. Last Update: 7 May, 2013 (4:48)
