Prata-Liberal-Goncalves syndrome
Findings
No curated finding names Prata-Liberal-Goncalves syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Definition from the Mondo Disease Ontology (MONDO:0017568), read 2026-09-29. CC BY 4.0.
Features
4 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.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Spina bifida occultaHPOHP:0003298
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Prata-Liberal-Goncalves syndrome
- Also called
- acrodysplasia scoliosisbrachydactyly-scoliosis-carpal fusion syndrome