Overview
Stickler syndrome type 1 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.
Disease of the joints
Always present (100%)HP:0003040
Stiff joint
Always present (100%)HP:0001387
Vitreoretinopathy
Always present (100%)HP:0007773
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormal vitreous humor morphology
Very frequent (80-99%)HP:0004327
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Lens opacities
Very frequent (80-99%)HP:0000518
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Near sighted
Very frequent (80-99%)HP:0000545
Retinal detachment
Very frequent (80-99%)HP:0000541
Retrognathia of upper jaw
Very frequent (80-99%)HP:0000327
Abnormality of the vertebral epiphyses
Frequent (30-79%)HP:0100734
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Arthralgias
Frequent (30-79%)HP:0002829
Cleft of palate
Frequent (30-79%)HP:0000175
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Decreased projection of midface
Frequent (30-79%)HP:0011800
Joint inflammation
Frequent (30-79%)HP:0001369
Loose-jointedness
Frequent (30-79%)HP:0001382
Mitral valve prolapse
Frequent (30-79%)HP:0001634
Osteoarthritis
Frequent (30-79%)HP:0002758
Prominent globes
Frequent (30-79%)HP:0000520
Retinal holes
Frequent (30-79%)HP:0011530
Scheuermann disease
Frequent (30-79%)HP:0010891
Scoliosis
Frequent (30-79%)HP:0002650
Sensorineural deafness
Frequent (30-79%)HP:0000407
Tympanic membrane hypermobility
Frequent (30-79%)HP:6000015
Glaucoma
Occasional (5-29%)HP:0000501
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Low intelligence
Occasional (5-29%)HP:0001249
Related Conditions
Quick Facts
- SNOMED CT
- 1010668008
- UMLS CUI
- C2020284
- Fully Specified Name
- Stickler syndrome type 1 (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.