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Bloom Syndrome

Bloom Syndrome: Introduction

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.

Symptoms of Bloom Syndrome

Home Diagnostic Testing

Home medical testing related to Bloom Syndrome:

Wrongly Diagnosed with Bloom Syndrome?

Bloom Syndrome: Related Patient Stories

Bloom Syndrome: Complications

Review possible medical complications related to Bloom Syndrome:

Causes of Bloom Syndrome

Read more about causes of Bloom Syndrome.

Disease Topics Related To Bloom Syndrome

Research the causes of these diseases that are similar to, or related to, Bloom Syndrome:

Less Common Symptoms of Bloom Syndrome

Bloom Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Bloom Syndrome

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 common symptoms are anal...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 over...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 pressure. The "cuff" around the arm to measure...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 psoriasis is rare in children, and not often seen by physicians...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in...read more »

Bloom Syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Bloom Syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Bloom Syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to Bloom Syndrome, on hospital performance and surgical care quality:

Evidence Based Medicine Research for Bloom Syndrome

Medical research articles related to Bloom Syndrome include:

Click here to find more evidence-based articles on the TRIP Database

Bloom Syndrome: Animations

Research about Bloom Syndrome

Visit our research pages for current research about Bloom Syndrome treatments.

Clinical Trials for Bloom Syndrome

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:

Statistics for Bloom Syndrome

Bloom Syndrome: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Bloom Syndrome, or answer someone else's question, on our message boards:

Definitions of Bloom Syndrome:

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

 

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