Abnormal facial expression on smiling with bladder dysfunction.
- Specialty
- Urology
- Subspecialty
- Urology / Pediatric urology
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- HPSE2, LRIG2
- Alternative names & eponyms
- Urofacial syndrome
Etiology & mechanism
Heparanase 2 or LRIG2 deficiency.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Ochoa syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Hinman syndrome
constipation, urinary tract infection
1 shared
Ask–Upmark kidney syndrome
urinary tract infection
1 shared
Barakat syndrome
vesicoureteral reflux
1 shared
Branchio-oto-renal syndrome
vesicoureteral reflux
1 shared
Chilaiditi syndrome
constipation
1 shared
Chronic intestinal pseudo-obstruction syndrome
constipation
1 shared
Irritable bowel syndrome
constipation
1 shared
Michelis–Castrillo syndrome
urinary tract infection
1 shared
Multiple endocrine neoplasia type 2B
constipation
1 shared
Ogilvie syndrome
constipation
Shares genes with
None.
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