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
See full list of 18
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...»
Read more about treatments for Urofacial syndrome
Home Diagnostic Testing
Home medical testing related to Urofacial syndrome:
- Bladder & Urinary Health: Home Testing:
Wrongly Diagnosed with Urofacial syndrome?
Urofacial syndrome: Related Patient Stories
Urofacial syndrome: Complications
Review possible medical complications related to Urofacial syndrome:
Causes of Urofacial syndrome
- The condition is inherited in an autosomal recessive manner
- more causes...»
Read more about causes of Urofacial syndrome
More information about causes of Urofacial syndrome:
Disease Topics Related To Urofacial syndrome
Research the causes of these diseases that are similar to, or related to, Urofacial syndrome:
Less Common Symptoms of Urofacial syndrome
Read more about 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 be...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...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, it's...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 diagnosed with fatal...read 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 bladder...read more »
Celiac disease often fails to be diagnosed cause of chronic digestive symptoms: One of the most common chronic digestive
conditions is celiac...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 Urofacial syndrome
Urofacial syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Face / Facial / Oral Health Specialists:
- Urinary & Bladder Specialists (Urology):
- Kidney Health Specialists (Nephrology):
- Digestive Health Specialists (Gastroenterology):
- more specialists...»
Other doctor, physician and specialist research services:
Hospitals & Clinics: Urofacial syndrome
Research quality ratings and patient safety measures
for medical facilities in specialties related to Urofacial syndrome:
Hospital & Clinic quality ratings »
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
More Urofacial syndrome animations & videos
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.
More about prognosis of Urofacial syndrome
Statistics for Urofacial syndrome
Urofacial syndrome: Broader Related Topics
Types of Urofacial syndrome
User Interactive Forums
Read about other experiences, ask a question about Urofacial syndrome, or answer someone else's question, on our message boards:
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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