Urofacial Syndrome

W G Newman, A S Woolf, H M Stuart, R A Pagon (Editor), M P Adam (Editor), H H Ardinger (Editor), T D Bird (Editor), C R Dolan (Editor), C T Fong (Editor), R J H Smith (Editor), K Stephens (Editor)

    Research output: Chapter in Book/Report/Conference proceedingChapter


    Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. The diagnosis of UFS is based on investigations of the urinary tract that reveal characteristic urinary tract abnormalities and physical examination that reveals characteristic facial movement with expression. UFS is a heterogeneous condition resulting from biallelic mutations in either HPSE2 or LRIG2. In some instances no disease-causing genetic change has been identified. Treatment of manifestations: Rapid and complete treatment of urinary tract infections and routine treatment of urosepsis. For urinary incontinence and bladder dysfunction: use of anti-cholinergic and alpha1-adrenergic blockers; intermittent catheterization or vesicostomy; surgical management of hydroureteronephrosis and bladder augmentation should be considered. Management of chronic kidney disease (CKD) and end-stage renal disease (ESRD) relies on the standard optimal options. Surveillance: Monitor for evidence of urinary tract features including vesicoureteric reflux (VUR) and hydroureteronephrosis. Renal function should be monitored at intervals determined by urinary tract features at presentation and their subsequent progression. Agents/circumstances to avoid: Nephrotoxic substances. Evaluation of relatives at risk: It is appropriate to examine sibs of an affected individual as soon as possible after birth to determine if facial and/or urinary tract manifestations of UFS are present to allow prompt evaluation of the urinary tract and renal function and prompt initiation of necessary treatment. Pregnancy management: Although no guidelines for prenatal management of UFS exist, it seems appropriate to perform ultrasound examination of pregnancies at risk to determine if urinary tract involvement of UFS is present, as this may influence the timing and/or location of delivery (e.g., in a tertiary medical center that could manage renal/urinary complications immediately after birth). UFS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing of pregnancies at increased risk are possible if the disease-causing mutations in the family are known.
    Original languageEnglish
    Title of host publicationGeneReviews(R)
    Place of PublicationSeattle (WA)
    Publication statusPublished - 2013


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