Lowe-Kohn-Cohen syndrome
MONDO:0016568Mondo
Findings
No curated finding names Lowe-Kohn-Cohen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Definition from the Mondo Disease Ontology (MONDO:0016568), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
- Anorectal anomalyHPOHP:0012732
- Very frequent (80% to 99% of cases)
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- Preauricular skin tagHPOHP:0000384
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Lowe-Kohn-Cohen syndrome
- Also called
- deafness-nephritis-ano-rectal malformation syndrome