Overview
Otocephalic 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.
Cleft of palate
Always present (100%)HP:0000175
Decreased size of tongue
Always present (100%)HP:0000171
Down-slanting palpebral fissure
Always present (100%)HP:0000494
Floppy windpipe
Always present (100%)HP:0002779
Hypoplasia of the epiglottis
Always present (100%)HP:0005349
Hypoplastic larynx
Always present (100%)HP:0008749
Increased amniotic fluid index
Always present (100%)HP:0001561
Increased nasal width
Always present (100%)HP:0000445
Laboured breathing
Always present (100%)HP:0002098
Low-set ears
Always present (100%)HP:0000369
Missing lower jaw
Always present (100%)HP:0009939
Narrow mouth
Always present (100%)HP:0000160
Patent ostium secundum
Always present (100%)HP:0001684
Poorly developed lungs
Always present (100%)HP:0002089
Synotia
Always present (100%)HP:0100663
Absence of corpus callosum
HP:0001274
Absence of tongue
HP:0012730
Decreased projection of mandible
HP:0000347
Eye disease
HP:0000478
Hearing loss, conductive
HP:0000405
Single brain ventricle
HP:0001360
Situs inversus totalis
Excluded (<1%)HP:0001696
Quick Facts
- SNOMED CT
- 48180002
- UMLS CUI
- C0265242
- Fully Specified Name
- Otocephalic syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.