mirror polydactyly-vertebral segmentation-limbs defects syndrome
Findings
No curated finding names mirror polydactyly-vertebral segmentation-limbs defects syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
Definition from the Mondo Disease Ontology (MONDO:0017583), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Duodenal atresiaHPOHP:0002247
- Very frequent (80% to 99% of cases)
- PhocomeliaHPOHP:0009829
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Very frequent (80% to 99% of cases)
- Aplasia of the thymusHPOHP:0005359
- Frequent (30% to 79% of cases)
- Foot polydactyly
Where it sits
- A kind of