Overview
Tetrasomy 21 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.
Brachydactyly
Frequent (30-79%)HP:0001156
Decreased size of cranium
Frequent (30-79%)HP:0000252
Lingual protrusion
Frequent (30-79%)HP:0010808
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental deficiency
Frequent (30-79%)HP:0001249
Mongoloid slant
Frequent (30-79%)HP:0000582
Muscular hypotonia
Frequent (30-79%)HP:0001252
Round facies
Frequent (30-79%)HP:0000311
Single flexion crease
Frequent (30-79%)HP:0000954
Thickened skin folds of neck
Frequent (30-79%)HP:0000474
Wide skull shape
Frequent (30-79%)HP:0000248
Common atrioventricular canal
Occasional (5-29%)HP:0001674
Depressed nasal root/bridge
Occasional (5-29%)HP:0005280
Increased distance between eyes
Occasional (5-29%)HP:0000316
Lingual hyperplasia
Occasional (5-29%)HP:0000158
Space between great toe and second toe
Occasional (5-29%)HP:0001852
Transient leukaemia of Down syndrome
Occasional (5-29%)HP:0005534
Quick Facts
- SNOMED CT
- 764690001
- UMLS CUI
- C4707057
- Fully Specified Name
- Tetrasomy 21 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.