Autosomal recessive Stickler syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Stickler syndrome | |
| fr | Syndrome de Stickler autosomique récessif | |
| de | Stickler-Syndrom, autosomal-rezessives | |
| es | Síndrome de Stickler autosómico recesivo | |
| it | Sindrome di Stickler autosomica recessiva | |
| nl | Autosomaal recessief syndroom van Stickler | |
| pt | Síndrome Stickler autossómica recessiva | |
| pl | Autosomalny recesywny zespół Sticklera | |
| cs | Autozomálně recesivní Sticklerův syndrom | |
| uk | Аутосомно-рецесивний синдром Стіклера | |
| zh | 常染色体隐性遗传性斯蒂克勒综合征 | |
| tr | Otozomal resesif Stickler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614134 | BTNT | validated | |
| OMIM | 614284 | BTNT | validated | |
| OMIM | 620022 | BTNT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| UMLS | C5439212 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93429Multiple epiphyseal dysplasia and pseudoachondroplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:828Stickler syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL9A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2218 | ENSG00000049089 | 120260 | 1p34.2 | collagen type IX alpha 2 chain | 21671392[PMID] |
| COL9A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2219 | ENSG00000092758 | 120270 | 20q13.33 | collagen type IX alpha 3 chain | 24273071[PMID] |
| COL9A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2217 | ENSG00000112280 | 120210 | 6q13 | collagen type IX alpha 1 chain | |
| LOXL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13869 | ENSG00000115318 | 607163 | 2p13.1 | lysyl oxidase like 3 | 25663169[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 16909383[PMID]_ 21421862[PMID]_21671392[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16909383[PMID]_ 21421862[PMID]_21671392[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.
HPO phenotypes
23 annotations · validated 2025-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0012368 | Flat face | |
| HP:0011003 | High myopia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0000518 | Cataract | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000545 | Myopia | |
| HP:0007773 | Vitreoretinopathy | |
| Occasional (29-5%) | ||
| HP:0006429 | Broad femoral neck | |
| HP:0000218 | High palate | |
| HP:0007992 | Lattice retinal degeneration | |
| HP:0000926 | Platyspondyly | |
| HP:0000541 | Retinal detachment | |
| HP:0002650 | Scoliosis | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
| Very rare (<4-1%) | ||
| HP:0000175 | Cleft palate | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33570243[PMID]_35241111[PMID]_31090205[PMID]_35885918[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250984
- This record as JSON: /data/d/250984.json