Overview
X-linked 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.
Abnormal nail morphology
HP:0001597
Abnormal vocalization
HP:0002167
Broad flat nasal bridge
HP:0000431
Depressed nasal root/bridge
HP:0005280
Flattened vertebral bodies
HP:0000926
Flexion contractures of hips
HP:0003273
Global developmental delay, mild
HP:0011342
Hunched back
HP:0002808
HyperCalcification of skull base
HP:0002694
Hyperextensible fingers
HP:0001187
Inability to straighten knee
HP:0006380
Increased distance between eyes
HP:0000316
Involuntary, rapid, rhythmic eye movements
HP:0000639
Mental retardation, mild
HP:0001256
Nostrils anteverted
HP:0000463
Pectus carinatum
HP:0000768
Prominent joints
HP:0003037
Respiratory failure
HP:0002878
Respiratory function loss
HP:0002093
Short finger
HP:0009381
Short stature, severe
HP:0003510
Spondylometaphyseal dysplasia
HP:0002657
Squint
HP:0000486
Tapering fingers
HP:0001182
Thickened facial skin with coarse facial features
HP:0000280
Thoracolumbar scoliosis
HP:0002944
Quick Facts
- SNOMED CT
- 773304004
- UMLS CUI
- C0796172
- Fully Specified Name
- Spondylometaphyseal dysplasia Golden type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.