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Coffin-Lowry syndrome

Coffin-Lowry syndrome: Introduction

Coffin-Lowry syndrome: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, ... more about Coffin-Lowry syndrome.

Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers. More detailed information about the symptoms, causes, and treatments of Coffin-Lowry syndrome is available below.

Symptoms of Coffin-Lowry syndrome

Treatments for Coffin-Lowry syndrome

Home Diagnostic Testing

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Wrongly Diagnosed with Coffin-Lowry syndrome?

Coffin-Lowry syndrome: Related Patient Stories

Coffin-Lowry syndrome: Complications

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Causes of Coffin-Lowry syndrome

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Disease Topics Related To Coffin-Lowry syndrome

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

Less Common Symptoms of Coffin-Lowry syndrome

Coffin-Lowry syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Coffin-Lowry 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 »

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...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,...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...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. The...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...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 ...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...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 children....read more »

Coffin-Lowry syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Coffin-Lowry syndrome

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

Coffin-Lowry syndrome: Rare Types

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Evidence Based Medicine Research for Coffin-Lowry syndrome

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Coffin-Lowry syndrome: Animations

Prognosis for Coffin-Lowry syndrome

Prognosis for Coffin-Lowry syndrome: The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. (Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)

Research about Coffin-Lowry syndrome

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Statistics for Coffin-Lowry syndrome

Coffin-Lowry syndrome: Broader Related Topics

Coffin-Lowry syndrome Message Boards

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User Interactive Forums

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Article Excerpts about Coffin-Lowry syndrome

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. (Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)

Definitions of Coffin-Lowry syndrome:

A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations. - (Source - Diseases Database)

Coffin-Lowry 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-Lowry syndrome, or a subtype of Coffin-Lowry 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-Lowry syndrome as a "rare disease".
Source - Orphanet

 

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