Urofacial syndrome
A rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with dysmorphic BLADDERS and dilatation of the URETER and RENAL PELVIS. They are at high risk of VESICO-URETERAL REFLUX and may also experience CONSTIPATION or ENCOPRESIS. In addition, affected individuals have a characteristic facial grimace when trying to smile. Mutations in the HPSE2 gene have been identified. OMIM: 236730
Also Known As:
Facial Palsy, Partial, With Urinary Abnormalities; Hydronephrosis with peculiar facial expression; Hydronephrosis-Inverted Smile; Inverted Smile-Neurogenic Bladder; Inverted smile and occult neuropathic bladder; Ochoa syndrome; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome
Networked: 11
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Woolf, Adrian S:
5 articles
(01/2020 - 03/2014)
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2. | Roberts, Neil A:
4 articles
(01/2020 - 04/2014)
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3. | Newman, William G:
4 articles
(01/2019 - 03/2014)
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4. | Stuart, Helen M:
4 articles
(01/2019 - 03/2014)
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5. | Hilton, Emma N:
3 articles
(01/2019 - 04/2014)
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6. | McKenzie, Edward A:
2 articles
(08/2014 - 04/2014)
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7. | Arvatz, Gil:
1 article
(01/2020)
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8. | Feld, Sari:
1 article
(01/2020)
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9. | Gross-Cohen, Miriam:
1 article
(01/2020)
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10. | Ilan, Neta:
1 article
(01/2020)
|
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Urofacial syndrome: