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 vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormal vitreous humor morphology
Very frequent (80-99%)HP:0004327
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthritic pain
Very frequent (80-99%)HP:0002829
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Impaired vision
Very frequent (80-99%)HP:0000505
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
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
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Retinal detachment
Very frequent (80-99%)HP:0000541
Retrognathia of upper jaw
Very frequent (80-99%)HP:0000327
Retromicrognathia
Very frequent (80-99%)HP:0000308
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Abnormality of the vertebral epiphyses
Frequent (30-79%)HP:0100734
Arachnodactyly
Frequent (30-79%)HP:0001166
Arthritis
Frequent (30-79%)HP:0001369
Bone pain
Frequent (30-79%)HP:0002653
Cardiac arrhythmias
Frequent (30-79%)HP:0011675
Central hypotonia
Frequent (30-79%)HP:0001252
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Cleft of palate
Frequent (30-79%)HP:0000175
Related Conditions
Stickler syndrome type 1(child)
Stickler syndrome type 2(child)
Stickler syndrome type 4(child)
Hereditary vitreoretinopathy(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of bone and joint(parent)
Congenital anomaly of retina(parent)
Musculoskeletal and connective tissue disorder(parent)
Congenital malformation of vitreous humour(parent)
Skeletal dysplasia(parent)
Multiple system malformation syndrome(parent)
Developmental hereditary disorder(parent)
Degenerative disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 78675000
- UMLS CUI
- C0265253
- Fully Specified Name
- Stickler syndrome (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.