postaxial polydactyly-dental and vertebral anomalies syndrome
Findings
No curated finding names postaxial polydactyly-dental and vertebral anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Definition from the Mondo Disease Ontology (MONDO:0009895), read 2026-09-29. CC BY 4.0.
Features
29 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 antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- HemivertebraeHPOHP:0002937
- Very frequent (80% to 99% of cases)
- Hypoplastic vertebral bodiesHPOHP:0008479
- Very frequent (80% to 99% of cases)
- MacrodontiaHPOHP:0001572
- Very frequent (80% to 99% of cases)
Show the remaining 17
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypodontiaHPOHP:0000668
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)