Ochoa syndrome

Common Name(s)

Ochoa syndrome, Hydronephrosis peculiar facial expression

Ochoa syndrome is a condition characterized by unusual facial expressions and urinary problems.  Affected individuals have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression; this may appear as early as an infant begins to smile. The urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infections, hydronephrosis, and eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus. The syndrome can be caused by mutations in the HPSE2 gene and is inherited in a autosomal recessive manner. Treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ochoa syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ochoa syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

More than meets the smile: facial muscle expression in children with Ochoa syndrome.
 

Author(s): I Ganesan, T Thomas

Journal: Med. J. Malaysia. 2011 Dec;66(5):507-9.

 

The Ochoa syndrome is the association of a non-neurogenic neurogenic bladder with abnormal facial muscle expression. Patients are at risk for renal failure due to obstructive uropathy. We report a family of three siblings, with an emphasis on the abnormalities in facial expression. ...

Last Updated: 6 Mar 2012

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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
 

Author(s): Wisam Al Badr, Suha Al Bader, Edgar Otto, Friedhelm Hildebrandt, Todd Ackley, Weiping Peng, Jishu Xu, Jun Li, Kailey M Owens, David Bloom, Jeffrey W Innis

Journal: J Pediatr Urol. 2011 Oct;7(5):569-73.

 

We describe a child of Middle Eastern descent by first-cousin coupling with idiopathic neurogenic bladder and high-grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (urofacial) syndrome at age 5 years. We used homozygosity ...

Last Updated: 19 Sep 2011

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Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.
 

Author(s): C Y Wang, B Hawkins-Lee, B Ochoa, R D Walker, J X She

Journal: Am. J. Hum. Genet.. 1997 Jun;60(6):1461-7.

 

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. The patients present with enuresis, urinary-tract infection, hydronephrosis, and voiding dysfunctions as a result of neurogenic ...

Last Updated: 10 Jul 1997

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Reviews from the PubMed Database

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The terms "Ochoa syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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