Overview
Ring chromosome 1 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 distribution of hair
Very frequent (80-99%)HP:0010720
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Permanent curving of the pinkie finger
Very frequent (80-99%)HP:0004209
Round, full face
Very frequent (80-99%)HP:0000311
Quick Facts
- SNOMED CT
- 47017007
- UMLS CUI
- C0265395
- Fully Specified Name
- Ring chromosome 1 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.