Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypoplasia of the ulna
Always present (100%)HP:0003022
Radial ray hypoplasia
Always present (100%)HP:0002984
Shoulder dislocation
Always present (100%)HP:0003834
Abnormally small eyeball
Very frequent (80-99%)HP:0000568
Decreased thenar eminence
Very frequent (80-99%)HP:0001245
Duane anomaly
Very frequent (80-99%)HP:0009921
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Fused neck
Occasional (5-29%)HP:0002949
Sensorineural deafness
Occasional (5-29%)HP:0000407
Slit-like opening of the exterior auditory meatus
Occasional (5-29%)HP:0008588
Underdeveloped pec muscle
Occasional (5-29%)HP:0008998
Abnormal rotation of the kidneys
HP:0004712
Abnormality of the nasopharynx
HP:0001739
Absent metacarpal
HP:0010048
Absent thumb
HP:0009777
Anal atresia
HP:0002023
Atria septal defect
HP:0001631
Choanal atresia
HP:0000453
Coanal stenosis
HP:0000452
Cobb angle greater than ten degrees
HP:0002650
Convergence insufficiency
HP:0000619
Crossed fused renal ectopia
HP:0004736
Facial muscle weakness of muscles innervated by CN VII
HP:0010628
Fallen arches
HP:0001763
Fused kidneys
HP:0000085
Hole in the back of the eye
HP:0000480
Humeral hypoplasia
HP:0005792
Hydronephrosis
HP:0000126
Hypoplastic optic discs
HP:0007766
Impaired ocular abduction
HP:0000634
Related Conditions
Quick Facts
- SNOMED CT
- 699867001
- UMLS CUI
- C1623209
- Fully Specified Name
- Duane-radial ray syndrome (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.