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Knobloch syndrome

Knobloch syndrome: Introduction

Knobloch syndrome: A rare genetic syndrome characterized by detachment of the retina of the eye and an occipital encephalocele (protrusion of brain tissue through gap in skull at the back of the head). More detailed information about the symptoms, causes, and treatments of Knobloch syndrome is available below.

Symptoms of Knobloch syndrome

Home Diagnostic Testing

Home medical testing related to Knobloch syndrome:

Wrongly Diagnosed with Knobloch syndrome?

Knobloch syndrome: Related Patient Stories

Knobloch syndrome: Complications

Read more about complications of Knobloch syndrome.

Causes of Knobloch syndrome

Read more about causes of Knobloch syndrome.

Disease Topics Related To Knobloch syndrome

Research the causes of these diseases that are similar to, or related to, Knobloch syndrome:

Knobloch syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Knobloch syndrome

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was initially...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...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...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),...read more »

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

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis)...read more »

Knobloch syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Knobloch syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Knobloch syndrome: Animations

Statistics for Knobloch syndrome

Knobloch syndrome: Broader Related Topics

User Interactive Forums

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

Definitions of Knobloch syndrome:

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

 

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