Ochoa syndrome; urofacial syndrome
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Epidemiology
- rare
Clinical manifestations
- manifestations in early childhood or adolescence
- urinary incontinence
- a frown-like facial grimace when trying to smile or laugh
- may be 1st manifestation, but frequently ignored
- constipation (2/3), fecal incontinence, anal spasms
Complications
- vesicoureteral reflux resulting in hydronephrosis
- pyelonephritis
References
- ↑ Ochoa syndrome Genetics Home Reference. https://ghr.nlm.nih.gov/condition/ochoa-syndrome
- ↑ Ochoa syndrome Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/104/ochoa-syndrome
- ↑ Urofacial syndrome National Organization for Rare Diseases (NORD) https://rarediseases.org/rare-diseases/urofacial-syndrome/
- ↑ Wikipedia: Urofacial syndrome https://en.wikipedia.org/wiki/Urofacial_syndrome