Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal humerus morphology
Frequent (30-79%)HP:0031095
coronal cleft of vertebrae
Frequent (30-79%)HP:0003417
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Dislocated patellae
Frequent (30-79%)HP:0002999
Dislocations of the knees
Frequent (30-79%)HP:0004976
Fetal foot inversion
Frequent (30-79%)HP:0001762
Respiratory function loss
Frequent (30-79%)HP:0002093
Shortened long tubular bones of the hand
Frequent (30-79%)HP:0001248
Tapering of outermost end of thighbone
Frequent (30-79%)HP:0006408
Ulnohumeral dislocation
Frequent (30-79%)HP:0003042
Vertebral hypoplasia
Frequent (30-79%)HP:0008417
Abnormal cervical curvature
Occasional (5-29%)HP:0005905
Absent fibulae
Occasional (5-29%)HP:0002990
Aplasia of the humerus
Occasional (5-29%)HP:0003862
Club-shaped distal femora
Occasional (5-29%)HP:0006384
Cognitive delay
Occasional (5-29%)HP:0001263
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Epiphyseal stippling of the humerus
Occasional (5-29%)HP:0003902
High arched palate
Occasional (5-29%)HP:0000218
Increased amniotic fluid index
Occasional (5-29%)HP:0001561
Laryngotracheomalacia
Occasional (5-29%)HP:0008755
Radial aplasia
Occasional (5-29%)HP:0003974
Short skankbone
Occasional (5-29%)HP:0005736
Thoracic hypoplasia
Occasional (5-29%)HP:0005257
Thoracolumbar gibbus deformity
Occasional (5-29%)HP:0005619
Thumb clasp
Occasional (5-29%)HP:0001188
Ulnar deviation of the wrist
Occasional (5-29%)HP:0003049
Acetabular angle flat
HP:0003180
Cervical kyphosis
HP:0002947
Cervical segmentation defect
HP:0004632
Quick Facts
- SNOMED CT
- 725142004
- UMLS CUI
- C3668942
- Fully Specified Name
- Atelosteogenesis type 3 (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.