MeSH Browser

MeSH Supplementary: Urofacial syndrome
Unique ID: C536480
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536480
Entry Term(s): Facial Palsy, Partial, With Urinary Abnormalities; Hydronephrosis with peculiar facial expression; Hydronephrosis-Inverted Smile; Inverted Smile-Neurogenic Bladder; Inverted smile and occult neuropathic bladder; Ochoa syndrome; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome
Registry Numbers: 0
Heading Mapped to: *Urologic Diseases; *Facies
Frequency: 25
Note: A rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with dysmorphic BLADDERS and dilatation of the URETER and RENAL PELVIS. They are at high risk of VESICO-URETERAL REFLUX and may also experience CONSTIPATION or ENCOPRESIS. In addition, affected individuals have a characteristic facial grimace when trying to smile. Mutations in the HPSE2 gene have been identified. OMIM: 236730
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Urofacial syndrome MeSH Supplementary Concept Data 2025