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HPSE2, LRIG2, and the Urofacial Syndrome 

HPSE2, LRIG2, and the Urofacial Syndrome
Chapter:
HPSE2, LRIG2, and the Urofacial Syndrome
Author(s):

Helen M. Stuart

, Adrian S. Woolf

, and William G. Newman

DOI:
10.1093/med/9780199934522.003.0207
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date: 07 March 2021

Urofacial syndrome (UFS; MIM: 236730), also called Ochoa syndrome, is a rare autosomal recessive disorder. It is genetically heterogeneous due to biallelic loss-of-function mutations in HPSE2 or LRIG2 and with evidence of further heterogeneity. UFS is characterized by abnormal neuromuscular function affecting the lower urinary tract, gastrointestinal tract and the distribution of the facial nerve. Urinary tract features include non-neurogenic bladder voiding dysfunction with risk of vesicoureteric reflux, hydroureteronephrosis and end stage renal failure. Lower gastrointestinal features include constipation and encopresis. There is variable weakness in the distribution of the facial nerve and an abnormality of facial movement typically described as a ‘grimace’ due to abnormal co-contraction of the corners of the mouth and eyes with expression. It is this extra-renal feature that distinguishes UFS from other causes of elimination dysfunction.

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