Overview
SIX2-related frontonasal dysplasia 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.
Absent/hypoplastic paranasal sinuses
Very frequent (80-99%)HP:0005453
Aplasia/Hypoplasia of the frontal sinuses
Very frequent (80-99%)HP:0009119
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Epicanthus inversus
Very frequent (80-99%)HP:0000537
Eye drop
Very frequent (80-99%)HP:0000508
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
High forehead
Very frequent (80-99%)HP:0000348
Abnormal skull base morphology
Frequent (30-79%)HP:0002693
Decreased body height
Frequent (30-79%)HP:0004322
Increased distance between eyes
Frequent (30-79%)HP:0000316
Large head
Frequent (30-79%)HP:0000256
Low birth weight
Frequent (30-79%)HP:0001518
Metopic suture craniosynostosis
Frequent (30-79%)HP:0011330
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Premature posterior fontanelle closure
Frequent (30-79%)HP:0005494
Prominent lateral palatal folds
Frequent (30-79%)HP:0010291
Small for gestational age infant
Frequent (30-79%)HP:0001511
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Quick Facts
- SNOMED CT
- 1172632008
- UMLS CUI
- C5567484
- Fully Specified Name
- SIX homeobox 2-related frontonasal dysplasia (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.