Overview
Pfeiffer syndrome type 3 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.
Aqueductal stenosis
Very frequent (80-99%)HP:0002410
Brachyturricephaly
Very frequent (80-99%)HP:0000244
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
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Floppy windpipe
Very frequent (80-99%)HP:0002779
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
Laryngomalacia
Very frequent (80-99%)HP:0001601
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Medially deviated halluces
Very frequent (80-99%)HP:0008080
Narrow ear canal
Very frequent (80-99%)HP:0000402
Prominent eyes
Very frequent (80-99%)HP:0000520
Short hallux
Very frequent (80-99%)HP:0010109
Small nose
Very frequent (80-99%)HP:0003196
Choanal atresia
Frequent (30-79%)HP:0000453
Disproportionately small hands
Frequent (30-79%)HP:0200055
Low-set ears
Frequent (30-79%)HP:0000369
Mental deficiency
Frequent (30-79%)HP:0001249
Partial syndactyly
Frequent (30-79%)HP:0006101
Seizures
Frequent (30-79%)HP:0001250
Small feet
Frequent (30-79%)HP:0001773
Syndactyly of feet
Frequent (30-79%)HP:0001770
Absent anus
Occasional (5-29%)HP:0002023
Cleft of palate
Occasional (5-29%)HP:0000175
Fused kidneys
Occasional (5-29%)HP:0000085
Related Conditions
Quick Facts
- SNOMED CT
- 1003918009
- UMLS CUI
- C5438850
- Fully Specified Name
- Pfeiffer syndrome type 3 (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.