U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Urofacial syndrome 2(UFS2)

MedGen UID:
767434
Concept ID:
C3554520
Disease or Syndrome
Synonyms: LRIG2-Related Urofacial Syndrome; UFS2
 
Gene (location): LRIG2 (1p13.2)
 
Monarch Initiative: MONDO:0014049
OMIM®: 615112

Disease characteristics

Excerpted from the GeneReview: Urofacial Syndrome
Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood 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 can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and dribbling incontinence; incomplete bladder emptying can lead to urinary infection with progressive kidney failure. Investigations after birth can show abnormal bladder contractility and vesicoureteral reflux of urine into the ureter and renal pelvis. Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) has also been documented. [from GeneReviews]
Authors:
William G Newman  |  Adrian S Woolf  |  Glenda M Beaman, et. al.   view full author information

Additional description

From OMIM
Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013). For a discussion of genetic heterogeneity of UFS, see UFS1 (236730).  http://www.omim.org/entry/615112

Clinical features

From HPO
Enuresis
MedGen UID:
8649
Concept ID:
C0014394
Disease or Syndrome
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Vesicoureteral reflux
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Bladder trabeculation
MedGen UID:
607647
Concept ID:
C0429803
Disease or Syndrome
Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Spastic/hyperactive bladder
MedGen UID:
373204
Concept ID:
C1836904
Finding
Megacystis
MedGen UID:
343318
Concept ID:
C1855311
Finding
Dilatation of the bladder postnatally.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Facial grimacing
MedGen UID:
65891
Concept ID:
C0234853
Finding

Recent clinical studies

Etiology

Rondon AV, Leslie B, Netto JM, Freitas RG, Ortiz V, Macedo Junior A
Einstein (Sao Paulo) 2015 Apr-Jun;13(2):279-82. Epub 2015 May 1 doi: 10.1590/S1679-45082015RC2990. PMID: 25946049Free PMC Article
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group, Saggar A, Kinali M; 4C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS
J Am Soc Nephrol 2015 Apr;26(4):797-804. Epub 2014 Aug 21 doi: 10.1681/ASN.2013090961. PMID: 25145936Free PMC Article
Tu Y, Yang P, Yang J, Xu Y, Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY
Int J Clin Exp Pathol 2014;7(5):1842-8. Epub 2014 Apr 15 PMID: 24966895Free PMC Article
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG
Am J Hum Genet 2013 Feb 7;92(2):259-64. Epub 2013 Jan 11 doi: 10.1016/j.ajhg.2012.12.002. PMID: 23313374Free PMC Article
Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S
Eur J Pediatr 2010 Apr;169(4):431-5. Epub 2009 Aug 11 doi: 10.1007/s00431-009-1042-9. PMID: 19669792

Diagnosis

Osorio S, Rivillas ND, Martinez JA
J Pediatr Urol 2021 Apr;17(2):246-254. Epub 2021 Jan 24 doi: 10.1016/j.jpurol.2021.01.017. PMID: 33558177
Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C
BMC Med Genet 2016 Nov 17;17(1):84. doi: 10.1186/s12881-016-0346-7. PMID: 27855655Free PMC Article
Tu Y, Yang P, Yang J, Xu Y, Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY
Int J Clin Exp Pathol 2014;7(5):1842-8. Epub 2014 Apr 15 PMID: 24966895Free PMC Article
Akl KF, Al Momany HM
Saudi J Kidney Dis Transpl 2012 Mar;23(2):346-8. PMID: 22382233
Al-Hazmi HH, Hammad AA, Jednak R, El-Sherbiny MT
Saudi Med J 2007 Dec;28(12):1895-7. PMID: 18060224

Therapy

Rondon AV, Leslie B, Netto JM, Freitas RG, Ortiz V, Macedo Junior A
Einstein (Sao Paulo) 2015 Apr-Jun;13(2):279-82. Epub 2015 May 1 doi: 10.1590/S1679-45082015RC2990. PMID: 25946049Free PMC Article
Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S
Eur J Pediatr 2010 Apr;169(4):431-5. Epub 2009 Aug 11 doi: 10.1007/s00431-009-1042-9. PMID: 19669792

Prognosis

Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS
Kidney Int 2019 May;95(5):1138-1152. Epub 2019 Mar 8 doi: 10.1016/j.kint.2018.11.040. PMID: 30885509Free PMC Article
Rondon AV, Leslie B, Netto JM, Freitas RG, Ortiz V, Macedo Junior A
Einstein (Sao Paulo) 2015 Apr-Jun;13(2):279-82. Epub 2015 May 1 doi: 10.1590/S1679-45082015RC2990. PMID: 25946049Free PMC Article
Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S
Eur J Pediatr 2010 Apr;169(4):431-5. Epub 2009 Aug 11 doi: 10.1007/s00431-009-1042-9. PMID: 19669792

Clinical prediction guides

Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS
Kidney Int 2019 May;95(5):1138-1152. Epub 2019 Mar 8 doi: 10.1016/j.kint.2018.11.040. PMID: 30885509Free PMC Article
Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C
BMC Med Genet 2016 Nov 17;17(1):84. doi: 10.1186/s12881-016-0346-7. PMID: 27855655Free PMC Article
Woolf AS, Stuart HM, Roberts NA, McKenzie EA, Hilton EN, Newman WG
Pediatr Nephrol 2014 Apr;29(4):513-8. Epub 2013 Jul 9 doi: 10.1007/s00467-013-2552-2. PMID: 23832138
Kutlu O, Koksal IT, Guntekin E, Kukul E
Scand J Urol Nephrol 2010 Feb;44(1):32-7. doi: 10.3109/00365590903445223. PMID: 20001446

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...