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
See full list of 28
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
See full list of 12
occasional 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 »
Read more about Misdiagnosis and Johanson-Blizzard Syndrome
Johanson-Blizzard Syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Ear, Nose & Throat Specialists:
- Neurology (Brain/CNS Specialists):
- Child Health Specialists (Pediatrics):
- more 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:
Hospital & Clinic quality ratings »
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
More Johanson-Blizzard Syndrome animations & videos
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
Types of Johanson-Blizzard Syndrome
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
Contents for Johanson-Blizzard Syndrome: