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Urofacial syndrome

Urofacial syndrome: Introduction

Urofacial syndrome: A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination. More detailed information about the symptoms, causes, and treatments of Urofacial syndrome is available below.

Symptoms of Urofacial syndrome

Treatments for Urofacial syndrome

  • Symptomatic measures: bladder retraining, medications - alpha blockers, anticholinergics, antibiotics (to prevent urinary tract infection), catheterization when needed and management of constipation (diet, medications, fluids).
  • more treatments...»

Home Diagnostic Testing

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Wrongly Diagnosed with Urofacial syndrome?

Urofacial syndrome: Related Patient Stories

Urofacial syndrome: Complications

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Causes of Urofacial syndrome

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Disease Topics Related To Urofacial syndrome

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Less Common Symptoms of Urofacial syndrome

Urofacial syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Urofacial syndrome

Chronic digestive conditions often misdiagnosed: When diagnosing chronic symptoms of the digestive tract, there are a variety of conditions that may 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 more »

Antibiotics often causes diarrhea: The use of antibiotics are very likely to cause some level of diarrhea in patients. The reason is that 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, it' 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 diagnosed with more »

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as various conditions such as overactive more »

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

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

Urofacial syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Urofacial syndrome

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

Urofacial syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Urofacial syndrome: Animations

Prognosis for Urofacial syndrome

Prognosis for Urofacial syndrome: If the condition is diagnosed early then kidney failure and damage to the upper urinary tract can be avoided. The unusual facial expression is present at infancy and this should prompt further investigation and diagnosis.

Statistics for Urofacial syndrome

Urofacial syndrome: Broader Related Topics

User Interactive Forums

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Definitions of Urofacial syndrome:

Inverted facial expression, wherein the affected children appear to be crying when they are actually smiling or laughing, with neurogenic bladder dysfunction. Hydrocephalus due to aqueductal stenosis and delayed psychomotor development were reported in a later case. The syndrome was named after Dr. Bernardo Ochoa who referred the patients for the original study. - (Source - Diseases Database)

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


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