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.
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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.
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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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