Overview
Axial spondylometaphyseal dysplasia 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.
Reduced sperm motility
Always present (100%)HP:0012207
Rhizomelic limb shortening
Always present (100%)HP:0008905
Abnormality of the thoracic cavity
Very frequent (80-99%)HP:0045027
Breakdown of light-sensitive cells in back of eye
Very frequent (80-99%)HP:0000556
Cone-rod retinal dystrophy
Very frequent (80-99%)HP:0000548
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Deformed rib cage
Very frequent (80-99%)HP:0000886
Hypoplasia involving bones of the upper limbs
Very frequent (80-99%)HP:0009824
Iliac abnormalities
Very frequent (80-99%)HP:0002867
Irregular lacy iliac crest
Very frequent (80-99%)HP:0008786
Low chest circumference
Very frequent (80-99%)HP:0000774
Proximal femoral metaphyseal abnormality
Very frequent (80-99%)HP:0006431
Retarded growth
Very frequent (80-99%)HP:0001510
Rib flaring
Very frequent (80-99%)HP:0000887
Rod-cone dystrophy
Very frequent (80-99%)HP:0000510
Short ribs
Very frequent (80-99%)HP:0000773
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Absent/underdeveloped ribs
Frequent (30-79%)HP:0006712
Absent/underdeveloped vertebrae
Frequent (30-79%)HP:0008515
Coxa vara
Frequent (30-79%)HP:0002812
Flared, irregular rib ends
Frequent (30-79%)HP:0006603
Flaring of lower rib cage
Frequent (30-79%)HP:0006589
Flat head of thigh bone
Frequent (30-79%)HP:0008812
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Increased upper to lower segment ratio
Frequent (30-79%)HP:0012774
Proximal femoral metaphyseal irregularity
Frequent (30-79%)HP:0003411
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Respiratory infection
Frequent (30-79%)HP:0011947
Acetabular angle flat
Occasional (5-29%)HP:0003180
Quick Facts
- SNOMED CT
- 771301002
- UMLS CUI
- C1865695
- Fully Specified Name
- Axial spondylometaphyseal 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.