Overview
Distal arthrogryposis type 5 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.
Decreased body height
Always present (100%)HP:0004322
Decreased facial expression
Always present (100%)HP:0004673
Distal arthrogryposis
Always present (100%)HP:0005684
Exertional dyspnea
Always present (100%)HP:0002875
High arched palate
Always present (100%)HP:0000218
Hunched back
Always present (100%)HP:0002808
Hyperopia
Always present (100%)HP:0000540
Hypoplastic palmar creases
Always present (100%)HP:0006184
Hyporeflexia
Always present (100%)HP:0001265
Limited eye motility from Duane anomaly
Always present (100%)HP:0009921
Limited wrist extension
Always present (100%)HP:0006251
Poor exercise tolerance
Always present (100%)HP:0003546
Reduced FEV1
Always present (100%)HP:0032342
Restrictive lung disease
Always present (100%)HP:0002091
Enophthalmos
Very frequent (80-99%)HP:0000490
Eye drop
Very frequent (80-99%)HP:0000508
Eye muscle paralysis
Very frequent (80-99%)HP:0000602
Indentation of chin
Very frequent (80-99%)HP:0010751
Pectus excavatum
Very frequent (80-99%)HP:0000767
Stiff joint
Very frequent (80-99%)HP:0001387
Abnormal ERG
Frequent (30-79%)HP:0000512
Absent palm lines
Frequent (30-79%)HP:0010489
Arachnodactyly
Frequent (30-79%)HP:0001166
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Blepharophimosis
Frequent (30-79%)HP:0000581
Congenital finger contractures
Frequent (30-79%)HP:0005879
Finger pointing in a different direction than usual
Frequent (30-79%)HP:0004097
Inguinal hernia
Frequent (30-79%)HP:0000023
Inverted triangular face
Frequent (30-79%)HP:0000325
Large pinnae
Frequent (30-79%)HP:0000400
Related Conditions
Quick Facts
- SNOMED CT
- 715217004
- UMLS CUI
- C1862472
- Fully Specified Name
- Distal arthrogryposis type 5 (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.