Overview
18p- 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 antihelix morphology
Very frequent (80-99%)HP:0009738
Brachydactyly
Very frequent (80-99%)HP:0001156
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Delayed language development
Very frequent (80-99%)HP:0000750
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Poor school performance
Very frequent (80-99%)HP:0001249
Prominent ear
Very frequent (80-99%)HP:0000411
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Central hypotonia
Frequent (30-79%)HP:0001252
Cleft of palate
Frequent (30-79%)HP:0000175
Decreased facial muscle movement
Frequent (30-79%)HP:0000338
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased size of cranium
Frequent (30-79%)HP:0000252
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Eye drop
Frequent (30-79%)HP:0000508
High arched palate
Frequent (30-79%)HP:0000218
High blood pressure
Frequent (30-79%)HP:0000822
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Low posterior hair line
Frequent (30-79%)HP:0002162
Macrotia
Frequent (30-79%)HP:0000400
Misalignment of teeth
Frequent (30-79%)HP:0000692
Palpebronasal fold
Frequent (30-79%)HP:0000286
Pectus excavatum
Frequent (30-79%)HP:0000767
Pterygium colli
Frequent (30-79%)HP:0000465
Rotting teeth
Frequent (30-79%)HP:0000670
Short neck
Frequent (30-79%)HP:0000470
Quick Facts
- SNOMED CT
- 270890001
- UMLS CUI
- C0432442
- Fully Specified Name
- Deletion of short arm of chromosome 18 (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.