Overview
Stickler syndrome type 2 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.
Ankle pain
Always present (100%)HP:0030840
Central hypotonia
Always present (100%)HP:0001252
Degenerative vitreoretinopathy
Always present (100%)HP:0007964
Increased fracture rate
Always present (100%)HP:0002757
Lumbar hypolordosis
Always present (100%)HP:0034770
Pain under knee cap
Always present (100%)HP:0030839
Persistent hyperplasia of primary vitreous
Always present (100%)HP:0007968
Primary angle closure glaucoma
Always present (100%)HP:0012109
Retinal dysgenesis
Always present (100%)HP:0007973
Severe myopia
Always present (100%)HP:0011003
Short stature, proportionate
Always present (100%)HP:0003508
Widened metaphyses
Always present (100%)HP:0003016
Abnormal vitreous humor morphology
Very frequent (80-99%)HP:0004327
Near sighted
Very frequent (80-99%)HP:0000545
Retinal detachment
Very frequent (80-99%)HP:0000541
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Cleft of palate
Frequent (30-79%)HP:0000175
Concave bridge of nose
Frequent (30-79%)HP:0005280
Flat midface
Frequent (30-79%)HP:0011800
Noninflammatory retina disease
Frequent (30-79%)HP:0000488
Nostrils anteverted
Frequent (30-79%)HP:0000463
Shallow eye sockets
Frequent (30-79%)HP:0000586
Tympanic membrane hypermobility
Frequent (30-79%)HP:6000015
Loose-jointedness
Occasional (5-29%)HP:0001382
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Uvula bifida
Very rare (1-4%)HP:0000193
Arachnodactyly
HP:0001166
Cataract
HP:0000518
Decreased projection of lower jaw
Excluded (<1%)HP:0000347
Related Conditions
Quick Facts
- SNOMED CT
- 1010664005
- UMLS CUI
- C1858084
- Fully Specified Name
- Stickler syndrome type 2 (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.