Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the thumbs
Always present (100%)HP:0001172
Bilateral absence of radius
Always present (100%)HP:0004977
Camptodactyly
Always present (100%)HP:0012385
Cervical ribs
Always present (100%)HP:0000891
Decreased body height
Always present (100%)HP:0004322
Dysplastic ears
Always present (100%)HP:0000377
Foot, talipes equinovarus
Always present (100%)HP:0001762
Hair displacement, preauricular, towards lateral cheekbone
Always present (100%)HP:0009554
Hypoplastic/small little finger
Always present (100%)HP:0009237
Limited forearm extension
Always present (100%)HP:0001377
Mitral valve prolapse
Always present (100%)HP:0001634
Nasolacrimal duct stenosis
Always present (100%)HP:0007678
Short hallux
Always present (100%)HP:0010109
Shortened 1st long bone of hand
Always present (100%)HP:0010034
Small midface
Always present (100%)HP:0011800
Squint
Always present (100%)HP:0000486
Unbalanced face
Always present (100%)HP:0000324
Velopharyngeal incompetence
Always present (100%)HP:0000220
Webbed 4th-5th toes
Always present (100%)HP:0004692
Aplastic/hypoplastic thumbs
Very frequent (80-99%)HP:0009601
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Hypoacusis
Very frequent (80-99%)HP:0000365
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Hypotrophic cheekbone
Very frequent (80-99%)HP:0010669
Hypotrophic maxilla
Very frequent (80-99%)HP:0000327
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Abnormal nasal morphology
Frequent (30-79%)HP:0005105
Abnormal palate morphology
Frequent (30-79%)HP:0000174
Quick Facts
- SNOMED CT
- 35520007
- UMLS CUI
- C0265245
- Fully Specified Name
- Nager 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.