Overview
Fryns Smeets Thiry 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.
Arachnodactyly
Very frequent (80-99%)HP:0001166
Cachexia
Very frequent (80-99%)HP:0004326
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Convex bridge of nose
Very frequent (80-99%)HP:0000426
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dislocated femoral heads
Very frequent (80-99%)HP:0002827
Dolichostenomelia
Very frequent (80-99%)HP:0001519
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Full lower lip
Very frequent (80-99%)HP:0000179
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Joint instability
Very frequent (80-99%)HP:0001382
Large mouth
Very frequent (80-99%)HP:0000154
Low intelligence
Very frequent (80-99%)HP:0001249
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Patellar aplasia
Very frequent (80-99%)HP:0006443
Pinched bridge of nose
Very frequent (80-99%)HP:0000446
Quick Facts
- SNOMED CT
- 1208344000
- UMLS CUI
- C5680810
- Fully Specified Name
- Fryns Smeets Thiry syndrome (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.