Overview
Stickler syndrome type 4 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 development of end part of bone
Very frequent (80-99%)HP:0002656
Flat facial shape
Very frequent (80-99%)HP:0012368
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Severe myopia
Very frequent (80-99%)HP:0011003
Abnormal vitreous humor morphology
Frequent (30-79%)HP:0004327
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Arthritic pain
Frequent (30-79%)HP:0002829
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Decreased projection of midface
Frequent (30-79%)HP:0011800
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Joint instability
Frequent (30-79%)HP:0001382
Lens opacities
Frequent (30-79%)HP:0000518
Near sighted
Frequent (30-79%)HP:0000545
vertebral endplate irregularity
Frequent (30-79%)HP:0003301
Vitreoretinopathy
Frequent (30-79%)HP:0007773
Broad femoral neck
Occasional (5-29%)HP:0006429
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
High arched palate
Occasional (5-29%)HP:0000218
Lattice retinal degeneration
Occasional (5-29%)HP:0007992
Retinal detachment
Occasional (5-29%)HP:0000541
Spondyloepiphyseal dysplasia
Occasional (5-29%)HP:0002655
Cleft of palate
Very rare (1-4%)HP:0000175
Quick Facts
- SNOMED CT
- 1010666007
- UMLS CUI
- C5439212
- Fully Specified Name
- Stickler syndrome type 4 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.