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Coffin-Siris Syndrome

Coffin-Siris Syndrome: Introduction

Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features. More detailed information about the symptoms, causes, and treatments of Coffin-Siris Syndrome is available below.

Symptoms of Coffin-Siris Syndrome

Home Diagnostic Testing

Home medical testing related to Coffin-Siris Syndrome:

Wrongly Diagnosed with Coffin-Siris Syndrome?

Coffin-Siris Syndrome: Related Patient Stories

Coffin-Siris Syndrome: Complications

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Causes of Coffin-Siris Syndrome

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Disease Topics Related To Coffin-Siris Syndrome

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

Less Common Symptoms of Coffin-Siris Syndrome

Coffin-Siris Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Coffin-Siris 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 itch (or ...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 suffered from sudden inability to speak. This was...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...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with...read more »

Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are also various other causes....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...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 ...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 which the...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 as Parkinson's disease or ...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 symptoms can occur in post-concussion...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical...read more »

Coffin-Siris Syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Coffin-Siris Syndrome

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

Coffin-Siris Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Coffin-Siris Syndrome

Medical research articles related to Coffin-Siris Syndrome include:

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

Coffin-Siris Syndrome: Animations

Research about Coffin-Siris Syndrome

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Statistics for Coffin-Siris Syndrome

Coffin-Siris Syndrome: Broader Related Topics

User Interactive Forums

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Definitions of Coffin-Siris Syndrome:

Mental and growth deficiency, nail onychodysplasia or aplasia (usually of the fifth finger or toe), short distal phalanges, coarse facies (usually bushy eyebrows, scant scalp hair, full lips, and microcephaly, and other abnormalities. - (Source - Diseases Database)

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

 

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