Ochoa syndrome

Also known as: Urofacial syndrome

Abnormal facial expression on smiling with bladder dysfunction.

Medical specialty: Urology
Subspecialty: Urology / Pediatric urology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: HPSE2, LRIG2

Etiology & mechanism

Heparanase 2 or LRIG2 deficiency.

Gene(s) involved (2)

HPSE2LRIG2

Symptoms & signs (5)

constipationincomplete bladder emptyinginverted smileurinary tract infectionvesicoureteral reflux

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.