NLM Logo

Urofacial syndrome MeSH Supplementary Concept Data 2022


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 Number
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 Preferred
page delivered in 0.004s