Overview
Ring chromosome 16 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.
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Decreased size of cranium
Frequent (30-79%)HP:0000252
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Dull intelligence
Frequent (30-79%)HP:0001249
Growth delay as children
Frequent (30-79%)HP:0008897
Low-set ears
Frequent (30-79%)HP:0000369
Speech difficulties
Frequent (30-79%)HP:0000750
ASD
Occasional (5-29%)HP:0000729
Cardiac anomaly
Occasional (5-29%)HP:0001627
Cognitive delay
Occasional (5-29%)HP:0001263
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Epilepsy
Occasional (5-29%)HP:0001250
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Fetal foot inversion
Occasional (5-29%)HP:0001762
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Increased intercanthal distance
Occasional (5-29%)HP:0000506
Unibrow
Occasional (5-29%)HP:0000664
Pre-B-cell acute lymphoblastic leukemia
Very rare (1-4%)HP:0004812
Quick Facts
- SNOMED CT
- 763406004
- UMLS CUI
- C4706449
- Fully Specified Name
- Ring chromosome 16 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.