Overview
9p partial trisomy syndrome 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.
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal nasal morphology
Very frequent (80-99%)HP:0005105
Abnormal pupil morphology
Very frequent (80-99%)HP:0000615
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Deep set eye
Very frequent (80-99%)HP:0000490
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Hypoplastic toenails
Very frequent (80-99%)HP:0001800
Large ears
Very frequent (80-99%)HP:0000400
Low intelligence
Very frequent (80-99%)HP:0001249
Protruding ear
Very frequent (80-99%)HP:0000411
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Short and broad skull
Very frequent (80-99%)HP:0000248
Short neck
Very frequent (80-99%)HP:0000470
Small fingernail
Very frequent (80-99%)HP:0001804
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Brachydactyly
Frequent (30-79%)HP:0001156
Buried tooth
Frequent (30-79%)HP:0011079
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Curvature of little finger
Frequent (30-79%)HP:0004209
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dysplastic fingernails
Frequent (30-79%)HP:0100798
Hunched back
Frequent (30-79%)HP:0002808
Increased distance between eyes
Frequent (30-79%)HP:0000316
Sacral dimple
Frequent (30-79%)HP:0000960
Tooth size discrepancy
Frequent (30-79%)HP:0000678
Non-midline cleft of the upper lip
Occasional (5-29%)HP:0100335
Quick Facts
- SNOMED CT
- 77527000
- UMLS CUI
- C0265428
- Fully Specified Name
- 9p partial trisomy syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.