Overview
Distal arthrogryposis type 5D 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.
Congenital hip dislocations
Always present (100%)HP:0001374
Decreased muscle mass
Always present (100%)HP:0003199
Limited knee flexion
Always present (100%)HP:0006389
Prominent swayback
Always present (100%)HP:0003307
Short neck
Always present (100%)HP:0000470
Wasting of the tongue
Always present (100%)HP:0012473
Eye drop
Frequent (30-79%)HP:0000508
Increased mobility of outermost hinge joint
Frequent (30-79%)HP:0006201
Limited elbow movement
Frequent (30-79%)HP:0002996
Narrow mouth
Frequent (30-79%)HP:0000160
Scoliosis
Frequent (30-79%)HP:0002650
Slack jawed appearance
Frequent (30-79%)HP:0000194
Calcaneovalgus Foot
Occasional (5-29%)HP:0001848
Cleft of palate
Occasional (5-29%)HP:0000175
Eyelids stay open
Occasional (5-29%)HP:0030001
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Limited shoulder movement
Occasional (5-29%)HP:0006467
Underdeveloped vaginal lips
Occasional (5-29%)HP:0000059
Bulbous nose
HP:0000414
Camptodactyly
HP:0012385
Decreased body height
HP:0004322
Fixed flexion at the elbow joint
HP:0002987
Hypoplastic mandible condyle
HP:0000347
Lingua plicata
HP:0000221
Nostrils anteverted
HP:0000463
Round facies
HP:0000311
Thick, flared eyebrows
HP:0002553
Thumb-in-palm pattern
HP:0001181
Quick Facts
- SNOMED CT
- 773396009
- UMLS CUI
- C3554415
- Fully Specified Name
- Distal arthrogryposis type 5D (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.