Urofacial Syndrome

Alternative Names

  • UFS
  • Ochoa Syndrome
  • Hydronephrosis with Peculiar Facial Expression
  • Inverted Smile and Occult Neuropathic Bladder
  • Facial Palsy, Partial, with Urinary Abnormalities
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

236730

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q23-q24

Description

The urofacial syndrome, also known as the Ochoa syndrome, is a rare autosomal recessive disorder comprising a congenital obstructive uropathy and abnormal facial expression. Obstructive uropathy originates from impaired neural communication between the bladder and the spinal cord, resulting in incomplete emptying of the bladder. Neurogenic bladder causes involuntary discharge of urine, urinary tract infections, and abnormal accumulation of urine in the kidneys. When affected patients smile, their facial musculature turns upside down or ''inverts'' so that they appear to be grimacing or crying. Some severely affected patients become hypertensive and progress to end-stage renal disease; others become uremic. In addition to facial and urinary abnormalities, about two-thirds of the patients also have moderate to severe constipation.

Molecular Genetics

Genome-wide scan located the disease gene within a genomic interval of approximately 1 cM (between D10S1433 and D10S603) on chromosome 10q23-q24 using homozygosity mapping and linkage disequilibrium analysis. Physical and genetic mapping studies further refined the disease gene to a region between the markers D10S110 and D10S2494, which are located on one YAC clone of approximately 1410 kb.

Epidemiology in the Arab World

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Other Reports

Kuwait

Teebi et al. (1989) described an Arab child of consanguineous parents with the characteristic 'inverted' facial expression, i.e., when smiling or laughing, he appeared to be crying. Investigations at age 6 showed minor changes, indicating the probable importance of detecting the abnormality through the facial expression at an early age. In 1991, Teebi and Hassoon indicated that at age 8 the child still showed the inverted facial expression upon laughing, but also had renal changes as a consequence of a neurogenic bladder in addition to hydrocephalus due to stenosis of the aqueduct of Sylvius. Teebi and Hassoon (1991) suggested that the association is not fortuitous and probably widens the spectrum of urofacial syndrome or represents a distinct entity mimicking the urofacial syndrome.

Saudi Arabia

Al-Qahtani (2003) reported three Saudi siblings born to consanguineous parents and suffering from inverted facial expression, voiding dysfunction, variable degrees of renal insufficiency and variable pathology in the gall bladder. The three patients were girls aged five, nine, and 16 years. The youngest girl presented with progressive lethargy, vomiting, fever and urinary retention. Interestingly, the abdominal sonogram showed multiple intraluminal echodensities with posterior acoustic shadow within the gall bladder suggestive of gallstones. All three siblings had severe bilateral hydronephrosis and hydroureter and thin renal parenchyma.

Al Badr et al. (2011) studied an 11-year-old patient whose parents are first degree cousins.  The father and mother had no history of repeated urinary tract infections.  The patient had a 13-year old brother and an 8-year old sister who have had no urological abnormalities or urinary tract infections, and each had normal ultrasound, urinalysis and urine culture investigations.  The siblings also do not demonstrate an inverted facial expression when smiling.  The proband was born at term following a normal vaginal delivery after an uneventful pregnancy.  Development and health were normal until 11-months of age when she developed a febrile E. coli urinary tract infection and was treated with oral antibiotics.  Renal ultrasonography showed mildly enlarged kidneys, with ureteral, pelvic and calyceal dilatation, and a large trabeculated bladder.  She had Type II second degree rectal prolapse, which later became intermittent with spontaneous reduction.  At age 5 years, the diagnosis of Ochoa was recognized when she showed the characteristic, inverted, facial expression at a routine examination.  At the age of 7 she was also noted to have slow growth, with height and weight falling below the 25th centile.  Psychomotor development had been normal.  She has had four episodes of orthostatic hypotension and presyncope but no syncopal episodes.  She had an exaggerated heart rate increase in response to postural change which is diagnostic of postural tachycardia syndrome; POTS.  Molecular analysis detected a 5-bp deletion in the HPSE gene.  The authors stressed on establishing an early diagnosis for this syndrome, since the morphologic and functional damage in the urinary tract is progressive.

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