Stickler syndrome
Findings
No curated finding names Stickler syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).
Definition from the Mondo Disease Ontology (MONDO:0019354), read 2026-09-29. CC BY 4.0.
Features
77 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormal vitreous humor morphologyHPOHP:0004327
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
Show the remaining 65
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Retinal detachmentHPOHP:0000541
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL9A3HGNC:2219
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2018
- BMP4HGNC:1071
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- LOXL3HGNC:13869
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
- LRP2HGNC:6694
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: Stickler syndrome
- Also called
- hereditary progressive arthroophthalmopathy