raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:828

Stickler syndrome

Synonyms: Hereditary progressive arthroophthalmopathy

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Antenatal, Childhood, Infancy, Neonatal
Status
active

A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enStickler syndromeHereditary progressive arthroophthalmopathy
frSyndrome de SticklerArthro-ophtalmoplégie héréditaire progressive
deStickler-SyndromArthro-Ophthalmopathie, hereditäre progressive
esSíndrome de Stickler
itSindrome di SticklerArtro-oftalmoplegia ereditaria progressiva
nlSyndroom van SticklerErfelijke progressieve artro-oftalmopathie
ptSíndrome SticklerArtro-oftalmopatia hereditária progressiva
plZespół Sticklera= en
csSticklerův syndromArthrophthalmopatia progressiva hereditaria
ukСиндром СтіклераСпадкова прогресуюча артроофтальмопатія
zhStickler综合征遗传性进行性关节与眼病
trStickler sendromuKalıtsal ilerleyici artrooftalmopati

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM108300BTNTvalidated
OMIM604841BTNTvalidated
OMIM609508BTNTvalidated
OMIM614134BTNTvalidated
OMIM614284BTNTvalidated
ICD-10Q87.0NTBTattributedvalidated
ICD-11LD2F.1YNTBTindexvalidated
MONDO0019354Evalidated
UMLSC0265253Evalidated
GARD10782Evalidated
MedDRA10063402Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (5):

Children (3):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct · 7 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
COL9A2ORPHA:250984Autosomal recessive Stickler syndromeDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:2218ENSG000000490891202601p34.2collagen type IX alpha 2 chain21671392[PMID]
COL9A3ORPHA:250984Autosomal recessive Stickler syndromeDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:2219ENSG0000009275812027020q13.33collagen type IX alpha 3 chain24273071[PMID]
BMP4ORPHA:90654Stickler syndrome type 2Disease-causing germline mutation(s) inAssessedHGNC:1071ENSG0000012537811226214q22.2bone morphogenetic protein 430568244[PMID]
COL11A1ORPHA:90654Stickler syndrome type 2Disease-causing germline mutation(s) inAssessedHGNC:2186ENSG000000607181202801p21.1collagen type XI alpha 1 chain
COL2A1ORPHA:90653Stickler syndrome type 1Disease-causing germline mutation(s) inAssessedHGNC:2200ENSG0000013921912014012q13.11collagen type II alpha 1 chain9800905[PMID]_21671392[PMID]
COL9A1ORPHA:250984Autosomal recessive Stickler syndromeDisease-causing germline mutation(s) inAssessedHGNC:2217ENSG000001122801202106q13collagen type IX alpha 1 chain
LOXL3ORPHA:250984Autosomal recessive Stickler syndromeDisease-causing germline mutation(s) inAssessedHGNC:13869ENSG000001153186071632p13.1lysyl oxidase like 325663169[PMID]
5

Prevalence and incidence

5 records
TypeClassValueAreaQualificationValidationSource
Prevalence at birth1-9 / 100 0001 / 100 000EuropeValue and classValidatedEUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Point prevalence1-9 / 100 000—EuropeClass onlyValidatedORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Prevalence at birth1-9 / 1 000 0000.65 / 100 000FranceValue and classValidated22925539[PMID]
Point prevalence1-9 / 1 000 000—FranceClass onlyValidated22925539[PMID]
Prevalence at birth1-5 / 10 00012.2 / 100 000WorldwideValue and classNot yet validated20301479[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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HPO phenotypes

77 annotations · validated 2024-09-20
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0003312Abnormal form of the vertebral bodies
HP:0004327Abnormal vitreous humor morphology
HP:0005930Abnormality of epiphysis morphology
HP:0002829Arthralgia
HP:0000518Cataract
HP:0005280Depressed nasal bridgeDiagnostic criterion
HP:0000286Epicanthus
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000272Malar flatteningDiagnostic criterion
HP:0000308MicroretrognathiaDiagnostic criterion
HP:0011800Midface retrusion
HP:0000545Myopia
HP:0000541Retinal detachmentDiagnostic criterion
HP:0003196Short nose
HP:0002652Skeletal dysplasia
HP:0000506Telecanthus
HP:0000505Visual impairment
Frequent (79-30%)
HP:0000463Anteverted nares
HP:0001166Arachnodactyly
HP:0011675Arrhythmia
HP:0000483Astigmatism
HP:0000193Bifid uvulaDiagnostic criterion
HP:0002653Bone pain
HP:0000389Chronic otitis media
HP:0000175Cleft palateDiagnostic criterion
HP:0000204Cleft upper lip
HP:0000457Depressed nasal ridge
HP:0001519Disproportionate tall stature
HP:0002020Gastroesophageal reflux
HP:0002857Genu valgum
HP:0000162Glossoptosis
HP:0000365Hearing impairment
HP:0011003High myopia
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0002808Kyphosis
HP:0007992Lattice retinal degenerationDiagnostic criterion
HP:0000158Macroglossia
HP:0031153Membranous vitreous appearance
HP:0000347Micrognathia
HP:0001634Mitral valve prolapse
HP:0002758OsteoarthritisDiagnostic criterion
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0000520Proptosis
HP:0006461Proximal femoral epiphysiolysisDiagnostic criterion
HP:0002205Recurrent respiratory infections
HP:0011530Retinal holeDiagnostic criterion
HP:0002650ScoliosisDiagnostic criterion
HP:0000407Sensorineural hearing impairmentDiagnostic criterion
HP:0003302SpondylolisthesisDiagnostic criterion
Occasional (29-5%)
HP:0000940Abnormal diaphysis morphology
HP:0000682Abnormality of dental enamel
HP:0006288Advanced eruption of teeth
HP:0031154Beaded vitreous appearance
HP:0000618Blindness
HP:0004326Cachexia
HP:0000519Developmental cataract
HP:0001083Ectopia lentis
HP:0008872Feeding difficulties in infancy
HP:0000501Glaucoma
HP:0004374Hemiplegia/hemiparesis
HP:0002827Hip dislocation
HP:0000316Hypertelorism
HP:0010807Open bite
HP:0003179Protrusio acetabuli
HP:0004349Reduced bone mineral density
HP:0010290Short hard palate
HP:0004322Short stature
HP:0003202Skeletal muscle atrophy
HP:0001533Slender build
HP:0003416Spinal canal stenosis
HP:0000486Strabismus
HP:0009804Tooth agenesis
HP:0000554Uveitis

Run the differential on the 12 obligate / very frequent terms

Annotation source: 16152640[PMID]_32867104[PMID]_20301479[PMID]

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Sources for this card