limb transversal defect-cardiac anomaly syndrome
MONDO:0016641Mondo
Findings
No curated finding names limb transversal defect-cardiac anomaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
10 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 fibula morphologyHPOHP:0002991
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Absent handHPOHP:0004050
- Very frequent (80% to 99% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Split handHPOHP:0001171
- Frequent (30% to 79% of cases)
- Tarsal synostosisHPOHP:0008368
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: limb transversal defect-cardiac anomaly syndrome
- Also called
- Hecht-Scott syndrome