Overview
Trisomy 17p is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bilateral fifth digit clinodactyly
Very frequent (80-99%)HP:0004209
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Low-set ears
Very frequent (80-99%)HP:0000369
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Poor school performance
Very frequent (80-99%)HP:0001249
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Eye drop
Frequent (30-79%)HP:0000508
Flexion contractures
Frequent (30-79%)HP:0001371
Generalized hirsutism
Frequent (30-79%)HP:0002230
High arched palate
Frequent (30-79%)HP:0000218
Hydronephrosis
Frequent (30-79%)HP:0000126
Hypertonia
Frequent (30-79%)HP:0001276
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased nasal width
Frequent (30-79%)HP:0000445
Narrow mouth
Frequent (30-79%)HP:0000160
Polycystic kidneys
Frequent (30-79%)HP:0000113
Poor growth
Frequent (30-79%)HP:0001510
Short neck
Frequent (30-79%)HP:0000470
Urethral stenosis
Frequent (30-79%)HP:0008661
Urethral valve
Frequent (30-79%)HP:0010481
Aortic stenosis
Occasional (5-29%)HP:0001650
Cleft of palate
Occasional (5-29%)HP:0000175
Coarse face
Occasional (5-29%)HP:0000280
Deafness
Occasional (5-29%)HP:0000365
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Quick Facts
- SNOMED CT
- 717049005
- UMLS CUI
- C0795865
- Fully Specified Name
- Trisomy 17p (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.