Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acetabular angle flat
Always present (100%)HP:0003180
Acetabular spurs
Always present (100%)HP:0010454
Brachydactyly
Always present (100%)HP:0001156
Decreased body height
Always present (100%)HP:0004322
Flat capital femoral epiphyses
Always present (100%)HP:0003370
Flat nasal bridge
Always present (100%)HP:0005280
Hypoplastic/small distal phalanx of the 3rd finger
Always present (100%)HP:0004180
Hypoplastic/small distal phalanx of the 4th finger
Always present (100%)HP:0009290
Limited forearm extension
Always present (100%)HP:0001377
Ovoid vertebral bodies
Always present (100%)HP:0003300
Rhizomelic arm shortening
Always present (100%)HP:0004991
Rhizomelic leg shortening
Always present (100%)HP:0012106
Severe myopia
Always present (100%)HP:0011003
Short distal phalanx of the 2nd finger
Always present (100%)HP:0009566
Short distal phalanx of the 5th finger
Always present (100%)HP:0004227
Short neck
Always present (100%)HP:0000470
Short toes
Always present (100%)HP:0001831
Shortened long bones of hand
Always present (100%)HP:0010049
Shortening of all middle phalanges of the fingers
Always present (100%)HP:0006110
vertebral endplate irregularity
Always present (100%)HP:0003301
Absent styloid process of ulna
HP:0005068
Barrel chest
HP:0001552
Boxer-like facial appearance
HP:0000339
Broad palm
HP:0001169
Broad thumbs
HP:0011304
Cone-shaped epiphyses of the fingers
HP:0010230
Distal phalangeal hypoplasia
HP:0009882
Flattened vertebral bodies
HP:0000926
Hunched back
HP:0002808
Hypoplasia of the ulna
HP:0003022
Related Conditions
Spondyloperipheral dysplasia with short ulna syndrome(child)
Autosomal dominant hereditary disorder(parent)
Osteochondrodysplasia syndrome(parent)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 702339001
- UMLS CUI
- C0796173
- Fully Specified Name
- Spondyloperipheral dysplasia (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.