Overview
Charlie M 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 toenail morphology
Very frequent (80-99%)HP:0008388
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Dental agenesis
Very frequent (80-99%)HP:0009804
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Narrow mouth
Very frequent (80-99%)HP:0000160
Non-midline cleft of the upper lip
Very frequent (80-99%)HP:0100335
Partial syndactyly
Very frequent (80-99%)HP:0006101
Split hand
Very frequent (80-99%)HP:0001171
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Large pinnae
Occasional (5-29%)HP:0000400
Triphalangy of thumb
Occasional (5-29%)HP:0001199
Quick Facts
- SNOMED CT
- 733034007
- UMLS CUI
- C4518555
- Fully Specified Name
- Charlie M syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.