Overview
Pfeiffer syndrome type 1 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.
Aplastic/hypoplastic thumbs
Very frequent (80-99%)HP:0009601
Bilateral coronal suture craniosynostosis
Very frequent (80-99%)HP:0011318
Broad bone of big toe
Very frequent (80-99%)HP:0010059
Broad thumbs
Very frequent (80-99%)HP:0011304
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
High arched palate
Very frequent (80-99%)HP:0000218
High forehead
Very frequent (80-99%)HP:0000348
Hypotrophic midface
Very frequent (80-99%)HP:0011800
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Medially deviated halluces
Very frequent (80-99%)HP:0008080
Short and broad skull
Very frequent (80-99%)HP:0000248
Short hallux
Very frequent (80-99%)HP:0010109
Small nose
Very frequent (80-99%)HP:0003196
Anterior bulging of the globe of eye
Frequent (30-79%)HP:0000520
Hypoplastic hands
Frequent (30-79%)HP:0004279
Low-set ears
Frequent (30-79%)HP:0000369
Partial syndactyly
Frequent (30-79%)HP:0006101
Small feet
Frequent (30-79%)HP:0001773
Syndactyly of feet
Frequent (30-79%)HP:0001770
Aqueductal stenosis
Occasional (5-29%)HP:0002410
Hearing impairment
Occasional (5-29%)HP:0000365
Related Conditions
Quick Facts
- SNOMED CT
- 1003877009
- UMLS CUI
- C5438812
- Fully Specified Name
- Pfeiffer syndrome type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.