blindness - scoliosis - arachnodactyly syndrome
MONDO:0012907Mondo
Findings
No curated finding names blindness - scoliosis - arachnodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
Definition from the Mondo Disease Ontology (MONDO:0012907), read 2026-09-29. CC BY 4.0.
Features
11 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.
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Lens subluxationHPOHP:0001132
- Frequent (30% to 79% of cases)
- MicrophakiaHPOHP:0012376
- Frequent (30% to 79% of cases)
- Retinal detachmentHPOHP:0000541
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)