Czeizel-Losonci syndrome
Findings
No curated finding names Czeizel-Losonci syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
Definition from the Mondo Disease Ontology (MONDO:0008467), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Abnormality of the urinary systemHPOHP:0000079
- Frequent (30% to 79% of cases)
- EctrodactylyHPOHP:0100257
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- Posterolateral diaphragmatic herniaHPOHP:0025193
- Frequent (30% to 79% of cases)
- Spina bifidaHPOHP:0002414
- Frequent (30% to 79% of cases)
- Split footHPOHP:0001839
- Frequent (30% to 79% of cases)
- Ureteral agenesis
Show the remaining 22
- Clubbing of toesHPOHP:0100760
- Occasional (5% to 29% of cases)
- Congenital megaureterHPOHP:0008676
- Occasional (5% to 29% of cases)
- DextrocardiaHPOHP:0001651
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Hitchhiker thumbHPOHP:0001234
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: Czeizel-Losonci syndrome
- Also called
- split hand with obstructive uropathy, spina bifida and diaphragmatic defectssplit hand-urinary anomalies-spina bifida syndrome