Overview
Trisomy 8p23.1 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.
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Language impairment
Frequent (30-79%)HP:0002463
Low intelligence
Frequent (30-79%)HP:0001249
Mental and motor retardation
Frequent (30-79%)HP:0001263
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Deep set eye
Occasional (5-29%)HP:0000490
Formation of new noncancerous bone on top of existing bone
Occasional (5-29%)HP:0100777
Hearing impairment
Occasional (5-29%)HP:0000365
Hydronephrosis
Occasional (5-29%)HP:0000126
Hypoadrenalism
Occasional (5-29%)HP:0000846
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of philtrum
Occasional (5-29%)HP:0000343
Increased nasal width
Occasional (5-29%)HP:0000445
Prominent lips
Occasional (5-29%)HP:0012471
Pulmonary stenosis
Occasional (5-29%)HP:0001642
Syndactyly of feet
Occasional (5-29%)HP:0001770
Tetrology of fallot
Occasional (5-29%)HP:0001636
VSD
Occasional (5-29%)HP:0001629
Related Conditions
Quick Facts
- SNOMED CT
- 765140006
- UMLS CUI
- C4707330
- Fully Specified Name
- 8p23.1 duplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.