Urofacial syndrome
Urofacial syndrome (also known as UFS or Ochoa syndrome) is a rare genetic disorder characterized by an unusual facial expression and urinary system abnormalities.
Symptoms[edit | edit source]
The most common symptoms of Urofacial syndrome include an unusual grimacing facial expression when laughing or crying, and problems with the urinary system. These problems can include urinary incontinence, urinary tract infections, and kidney damage.
Causes[edit | edit source]
Urofacial syndrome is caused by mutations in the HPSE2 or LRIG2 gene. It is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Diagnosis[edit | edit source]
Diagnosis of Urofacial syndrome is based on the clinical symptoms and confirmed by genetic testing.
Treatment[edit | edit source]
Treatment for Urofacial syndrome is symptomatic and supportive. It may include medications to manage urinary symptoms, and in some cases, surgery may be required.
Prognosis[edit | edit source]
The prognosis for individuals with Urofacial syndrome varies. Some individuals may have mild symptoms and a normal lifespan, while others may experience severe complications and a shortened lifespan.
See also[edit | edit source]
References[edit | edit source]
Urofacial syndrome Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Admin, Prab R. Tumpati, MD