tetraploidy syndrome
MONDO:0018026Mondo
Findings
No curated finding names tetraploidy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.
Definition from the Mondo Disease Ontology (MONDO:0018026), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ear cartilageHPOHP:0100720
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Radial ray deficiencyHPOHP:0006433
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia affecting the eyeHPOHP:0008056
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the thymusHPOHP:0010515
- Occasional (5% to 29% of cases)
Show the remaining 5
- Chiari malformationHPOHP:0002308
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- HydronephrosisHPOHP:0000126
- Occasional (5% to 29% of cases)
- Preauricular skin tagHPOHP:0000384
- Occasional (5% to 29% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: tetraploidy syndrome
- Also called
- tetraploidy