Overview
Pfeiffer syndrome type 2 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 thumb placement
Very frequent (80-99%)HP:0009603
Broad bone of big toe
Very frequent (80-99%)HP:0010059
Broad thumbs
Very frequent (80-99%)HP:0011304
Chiari malformation
Very frequent (80-99%)HP:0002308
Cloverleaf cranium shape
Very frequent (80-99%)HP:0002676
Concave bridge of nose
Very frequent (80-99%)HP:0005280
High arched palate
Very frequent (80-99%)HP:0000218
High forehead
Very frequent (80-99%)HP:0000348
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Laboured breathing
Very frequent (80-99%)HP:0002098
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Medially deviated halluces
Very frequent (80-99%)HP:0008080
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Protruding eyes
Very frequent (80-99%)HP:0000520
Short hallux
Very frequent (80-99%)HP:0010109
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Absent auditory canals
Frequent (30-79%)HP:0000413
Aqueductal stenosis
Frequent (30-79%)HP:0002410
Choanal atresia
Frequent (30-79%)HP:0000453
Disproportionately small hands
Frequent (30-79%)HP:0200055
Dull intelligence
Frequent (30-79%)HP:0001249
Epilepsy
Frequent (30-79%)HP:0001250
Floppy windpipe
Frequent (30-79%)HP:0002779
Laryngomalacia
Frequent (30-79%)HP:0001601
Low-set ears
Frequent (30-79%)HP:0000369
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Partial syndactyly
Frequent (30-79%)HP:0006101
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Small feet
Frequent (30-79%)HP:0001773
Syndactyly of feet
Frequent (30-79%)HP:0001770
Related Conditions
Quick Facts
- SNOMED CT
- 1003916008
- UMLS CUI
- C5438849
- Fully Specified Name
- Pfeiffer syndrome type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.