nephrosis-deafness-urinary tract-digital malformations syndrome
Findings
No curated finding names nephrosis-deafness-urinary tract-digital malformations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.
Definition from the Mondo Disease Ontology (MONDO:0009731), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Abnormal thumb morphologyHPOHP:0001172
- Frequent (30% to 79% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Frequent (30% to 79% of cases)
- Bifid distal phalanx of the thumbHPOHP:0009611
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- Broad halluxHPOHP:0010055
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Hydronephrosis
Where it sits
Other names
1 name
Resolves to: nephrosis-deafness-urinary tract-digital malformations syndrome
- Also called
- Braun-Bayer syndrome