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Urofacial syndrome MeSH Supplementary Concept Data 2022

MeSH Supplementary
Urofacial syndrome
Unique ID
RDF Unique Identifier
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 Number
Heading Mapped to
*Urologic Diseases
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
Revision Date
Urofacial syndrome Preferred
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