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Ochoa syndrome(UFS; UFS1)

MedGen UID:
98015
Concept ID:
C0403555
Congenital Abnormality
Synonyms: Hydronephrosis with peculiar facial expression; Inverted smile and occult neuropathic bladder; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome; Urofacial Syndrome
SNOMED CT: Ochoa syndrome (236533008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0000463
OMIM®: 236730; 613469
OMIM® Phenotypic series: PS236730
Orphanet: ORPHA2704

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 MedlinePlus Genetics
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure.

Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention.

Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.  https://medlineplus.gov/genetics/condition/ochoa-syndrome

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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.
Urethral obstruction
MedGen UID:
12015
Concept ID:
C0041972
Disease or Syndrome
Obstruction of the flow of urine through the urethra.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Urethral valve
MedGen UID:
120573
Concept ID:
C0266345
Congenital Abnormality
The presence of an abnormal membrane obstructing the urethra.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Abnormal facial expression
MedGen UID:
870752
Concept ID:
C4025209
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Ochoa syndrome in Orphanet.

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
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
Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW
J Pediatr Urol 2011 Oct;7(5):569-73. Epub 2011 Mar 29 doi: 10.1016/j.jpurol.2011.02.034. PMID: 21450525Free 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

Cesur Baltacı HN, Taşdelen E, Topçu V, Eminoğlu FT, Karabulut HG
J Pediatr Endocrinol Metab 2021 May 26;34(5):653-657. Epub 2021 Feb 26 doi: 10.1515/jpem-2020-0367. PMID: 33647194
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
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
Sutay NR, Kulkarni R, Arya MK
Indian Pediatr 2010 May;47(5):445-6. doi: 10.1007/s13312-010-0067-5. PMID: 20519791
Ochoa B
Pediatr Nephrol 2004 Jan;19(1):6-12. Epub 2003 Nov 25 doi: 10.1007/s00467-003-1291-1. PMID: 14648341

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
Wang CY, Hawkins-Lee B, Ochoa B, Walker RD, She JX
Am J Hum Genet 1997 Jun;60(6):1461-7. doi: 10.1086/515469. PMID: 9199567Free PMC Article

Prognosis

Cesur Baltacı HN, Taşdelen E, Topçu V, Eminoğlu FT, Karabulut HG
J Pediatr Endocrinol Metab 2021 May 26;34(5):653-657. Epub 2021 Feb 26 doi: 10.1515/jpem-2020-0367. PMID: 33647194
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
Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW
J Pediatr Urol 2011 Oct;7(5):569-73. Epub 2011 Mar 29 doi: 10.1016/j.jpurol.2011.02.034. PMID: 21450525Free 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
Elejalde BR
Am J Med Genet 1979;3(1):97-108. doi: 10.1002/ajmg.1320030114. PMID: 474623

Clinical prediction guides

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
Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW
J Pediatr Urol 2011 Oct;7(5):569-73. Epub 2011 Mar 29 doi: 10.1016/j.jpurol.2011.02.034. PMID: 21450525Free PMC Article
Skálová S, Rejtar I, Novák I, Jüttnerová V
Prague Med Rep 2006;107(1):125-9. PMID: 16752812
Ochoa B
Pediatr Nephrol 2004 Jan;19(1):6-12. Epub 2003 Nov 25 doi: 10.1007/s00467-003-1291-1. PMID: 14648341

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