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| Disease found: | Urofacial syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Urofacial syndrome is a rare inherited disorder resulting in an unusual facial expression and disorder of the urinary tract that causes retrograde urine flow. The problem can be present congenitally, causing neuropathic bladder and inverted smiles. This condition is linked to mutations in the HPSE2 or LRIG2 genes. [more info] |
| Signs and Symptoms: | Urinary and facial problems including inverted facial expression, obstructive uropathy, neurogenic bladder, and diurnal or nocturnal enuresis. Additional abnormalities can include involuntary urine discharge, UTIs, constipation, hydronephrosis, pyelonephritis, and vesicoureteral reflux. Without appropriate treatment, kidney damage can become extensive and cause hypertension. |
| Diagnosis: | Molecular genetic testing can confirm a diagnosis of urofacial syndrome by finding pathogenic variants in HPSE2 or LRIG2. |
| Treatment: | Symptom specific treatment, genetic counseling, UTI therapy, constipation therapy. Anti-cholinergics and alpha-1-adrenergic blockers have been used to treat symptoms. |
| Clinical Management: | Interdisciplinary management based on individual-specific symptoms. |
| Referral: | Pediatricians, urologists, nephrologists, surgeons, genetic counselors, and dieticians can all be involved with management and care.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |