Overview
Otofaciocervical 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 clavicles
Very frequent (80-99%)HP:0000889
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Big cheeks
Very frequent (80-99%)HP:0000293
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
High arched palate
Very frequent (80-99%)HP:0000218
Increased reflexes
Very frequent (80-99%)HP:0001347
Large pinnae
Very frequent (80-99%)HP:0000400
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Poor school performance
Very frequent (80-99%)HP:0001249
Preauricular fistulas
Very frequent (80-99%)HP:0004467
Prominent ear
Very frequent (80-99%)HP:0000411
Scapula alata
Very frequent (80-99%)HP:0003691
Sloping shoulders
Very frequent (80-99%)HP:0200021
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Abnormal antihelix morphology
Frequent (30-79%)HP:0009738
Delayed skeletal development
Frequent (30-79%)HP:0002750
Absent external auditory canals
Occasional (5-29%)HP:0000413
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
Unbalanced face
Occasional (5-29%)HP:0000324
Quick Facts
- SNOMED CT
- 763860004
- UMLS CUI
- C1833691
- Fully Specified Name
- Otofaciocervical syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.