Urofacial syndrome, also called Ochoa syndrome, is an autosomal recessive congenital disorder that combines dysfunction of the lower urinary tract and bowel with a distinctive facial expression: when a patient tries to smile, he or she appears to be crying or grimacing. The Colombian physician Bernardo Ochoa first described it in the early 1960s. The inverted expression allows early recognition, which matters for prognosis because the urinary problems can cause harm if left untreated. Incontinence, due to discoordination between the detrusor muscle and the sphincter, is another readily noticed feature. The syndrome may be associated with the HPSE2 gene.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Urofacial syndrome (Wikipedia)
Lead, first sentence
autosomal recessive congenital disorder
Lead, first sentence [body-system]
lower urinary tract and bowel dysfunction
lead sentence 1
Urofacial syndrome, or Ochoa syndrome, is an autosomal recessive congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: when attempting to smile, the patient seems to be crying or grimacing.
Lead: disease category
Urofacial syndrome, or Ochoa syndrome, is an autosomal recessive congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: when attempting to smile, the patient seems to be crying or grimacing.
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