Urofacial syndrome

Urofacial Syndrome

Urofacial syndrome (pronunciation: yoo-roh-fey-shuhl sin-drohm), also known as Ochoa syndrome, is a rare genetic disorder characterized by an unusual facial expression and urinary system abnormalities.

Etymology

The term "urofacial" is derived from the Greek words "ouro" meaning urine and "prosopon" meaning face. The syndrome is named after the Colombian pediatrician, Dr. Bernardo Ochoa, who first described the condition in 1975.

Definition

Urofacial syndrome is a condition that primarily affects the urinary system and facial muscles. Individuals with this syndrome have an unusual facial expression, often described as a "grimace," when they attempt to smile or laugh. Additionally, they experience difficulties with the function of the bladder and urinary tract, which can lead to serious kidney problems.

Symptoms

The most common symptoms of urofacial syndrome include:

• Facial dysmorphism: An unusual facial expression, often described as a "grimace," when attempting to smile or laugh.
• Urinary incontinence: Involuntary leakage of urine.
• Urinary tract infection: Infections in any part of the urinary system, including the kidneys, bladder, ureters, and urethra.
• Vesicoureteral reflux: A condition where urine flows backward from the bladder into the ureters and kidneys.

Causes

Urofacial syndrome is a genetic disorder caused by mutations in the HPSE2 or LRIG2 genes. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of urofacial syndrome is based on the presence of characteristic symptoms, a detailed patient history, and specialized tests such as genetic testing.

Treatment

Treatment for urofacial syndrome is symptomatic and supportive. It may include medications to manage urinary tract infections and incontinence, as well as surgery to correct vesicoureteral reflux.

Related Terms

• Genetic disorder
• Urinary system
• Facial muscles
• Kidney problems
• Autosomal recessive

External links

• Medical encyclopedia article on Urofacial syndrome
• Wikipedia's article - Urofacial syndrome

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