trisomy 17p
MONDO:0016840Mondo
Findings
No curated finding names trisomy 17p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Definition from the Mondo Disease Ontology (MONDO:0016840), read 2026-09-29. CC BY 4.0.
Features
50 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Generalized hirsutismHPOHP:0002230
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
Show the remaining 38
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: trisomy 17p
- Also called
- dup(17p)trisomy type 17p