Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Pterygium colli
Very frequent (80-99%)HP:0000465
Scoliosis
Very frequent (80-99%)HP:0002650
Stiff joint
Very frequent (80-99%)HP:0001387
Thumb-in-palm pattern
Very frequent (80-99%)HP:0001181
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Abnormality of the hips
Frequent (30-79%)HP:0003272
Decreased body height
Frequent (30-79%)HP:0004322
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
High arched palate
Frequent (30-79%)HP:0000218
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Overlapping fingers
Frequent (30-79%)HP:0010557
Prominent ear
Frequent (30-79%)HP:0000411
Round ear
Frequent (30-79%)HP:0100830
Short neck
Frequent (30-79%)HP:0000470
Tarsal bone synostosis
Frequent (30-79%)HP:0008368
Ulnar Drift
Frequent (30-79%)HP:0009465
Absent interphalangeal creases
HP:0006109
Arthrogryposis multiplex
HP:0002804
Calcaneovalgus Foot
HP:0001848
Deep nasolabial crease
HP:0005272
Distal arthrogryposis
HP:0005684
Down-slanting palpebral fissure
HP:0000494
Ear anomaly
HP:0000598
Foot, talipes equinovarus
HP:0001762
Increased length of philtrum
HP:0000343
Intoe
HP:0001840
Inverted triangular face
HP:0000325
Related Conditions
Quick Facts
- SNOMED CT
- 715216008
- UMLS CUI
- C1834523
- Fully Specified Name
- Distal arthrogryposis type 2B (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.