Overview
Spondyloepimetaphyseal dysplasia Irapa type 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.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of joints
Very frequent (80-99%)HP:0001367
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthralgias
Very frequent (80-99%)HP:0002829
Broad foot
Very frequent (80-99%)HP:0001769
Broad palm
Very frequent (80-99%)HP:0001169
Coxa vara
Very frequent (80-99%)HP:0002812
Dropped arches
Very frequent (80-99%)HP:0001763
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Gait disturbance
Very frequent (80-99%)HP:0001288
Genu valga
Very frequent (80-99%)HP:0002857
Hypoplasia involving bones of the upper limbs
Very frequent (80-99%)HP:0009824
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Micromelia
Very frequent (80-99%)HP:0002983
Osteoarthritis
Very frequent (80-99%)HP:0002758
Pectus carinatum
Very frequent (80-99%)HP:0000768
Rib anomalies
Very frequent (80-99%)HP:0000772
Spondyloepimetaphyseal dysplasia
Very frequent (80-99%)HP:0002651
Osteoporosis
Frequent (30-79%)HP:0000939
Short long bone of foot
Frequent (30-79%)HP:0010743
Shortened long bones of hand
Frequent (30-79%)HP:0010049
Small pelvis
Frequent (30-79%)HP:0008839
Anomalous carpal bones
Occasional (5-29%)HP:0001191
Fusion of wrist bones
Occasional (5-29%)HP:0005048
Broad femoral neck
HP:0006429
Fusion of hamate and capitate
HP:0001241
Hypoplastic sacrum
HP:0004590
Increased lumbar lordosis
HP:0002938
Limited forearm extension
HP:0001377
Quick Facts
- SNOMED CT
- 717330004
- UMLS CUI
- C0432213
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia Irapa type (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.