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Urofacial syndrome 2

Synonyms
LRIG2-Related Urofacial Syndrome

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
William G Newman
Adrian S Woolf
Glenda M Beaman
view full author information

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LIG-2, LIG2, UFS2, LRIG2
    Summary: leucine rich repeats and immunoglobulin like domains 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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