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Johanson-Blizzard Syndrome

Johanson-Blizzard Syndrome: Introduction

Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness. More detailed information about the symptoms, causes, and treatments of Johanson-Blizzard Syndrome is available below.

Symptoms of Johanson-Blizzard Syndrome

Home Diagnostic Testing

Home medical testing related to Johanson-Blizzard Syndrome:

Wrongly Diagnosed with Johanson-Blizzard Syndrome?

Johanson-Blizzard Syndrome: Related Patient Stories

Johanson-Blizzard Syndrome: Complications

Read more about complications of Johanson-Blizzard Syndrome.

Causes of Johanson-Blizzard Syndrome

Read more about causes of Johanson-Blizzard Syndrome.

Disease Topics Related To Johanson-Blizzard Syndrome

Research the causes of these diseases that are similar to, or related to, Johanson-Blizzard Syndrome:

Less Common Symptoms of Johanson-Blizzard Syndrome

Johanson-Blizzard Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Johanson-Blizzard 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...read more »

Chronic digestive conditions often misdiagnosed: When diagnosing chronic symptoms of the digestive tract, there are a variety of conditions that may be misdiagnosed. The best known,...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he...read more »

Intestinal bacteria disorder may be hidden cause: One of the lesser known causes of diarrhea is an imbalance of bacterial in the gut, sometimes called intestinal imbalance. The digestive system contains a...read more »

Antibiotics often causes diarrhea: The use of antibiotics are very likely to cause some level of diarrhea in patients. The reason is that antibiotics kill off not only "bad...read more »

Food poisoning may actually be an infectious disease: Many people who come down with "stomach symptoms" like diarrhea assume that it's "something I ate" (i.e. food poisoning). In fact,...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease, it...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-diagnosed (it can, of course, also fail to be...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion diagnosis....read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed...read more »

Celiac disease often fails to be diagnosed cause of chronic digestive symptoms: One of the most common chronic digestive conditions is celiac disease, a...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A...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 »

Chronic digestive diseases hard to diagnose: There is an inherent difficulty in diagnosing the various types of chronic digestive diseases. Some...read more »

Johanson-Blizzard Syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Johanson-Blizzard Syndrome

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

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

Johanson-Blizzard Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Johanson-Blizzard Syndrome

Medical research articles related to Johanson-Blizzard Syndrome include:

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

Johanson-Blizzard Syndrome: Animations

Research about Johanson-Blizzard Syndrome

Visit our research pages for current research about Johanson-Blizzard Syndrome treatments.

Statistics for Johanson-Blizzard Syndrome

Johanson-Blizzard Syndrome: Broader Related Topics

User Interactive Forums

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

Definitions of Johanson-Blizzard Syndrome:

Aplasia of the alae nasi, hearing disorders, hypothyroidism, dwarfism, absent permanent teeth, malabsorption, and mental retardation. - (Source - Diseases Database)

Johanson-Blizzard Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Johanson-Blizzard Syndrome, or a subtype of Johanson-Blizzard 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 Johanson-Blizzard Syndrome as a "rare disease".
Source - Orphanet

 

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