Autosomal recessive Stickler syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 22 |
| OrphanetNr: | 250984 |
| OMIM Id: |
614134
614284 |
| ICD-10: |
Q15.8 Q87.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple epiphyseal dysplasia and pseudoachondroplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Stickler syndrome -Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000327) | Hypoplasia of the maxilla | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] 4/4 [HPO:probinson] | 16909383 | IBIS | 106 / 7739 | |
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(HPO:0011003) | Severe Myopia | 31 / 7739 | ||||
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(HPO:0000488) | Retinopathy | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0007964) | Degenerative vitreoretinopathy | 2 / 7739 | ||||
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(HPO:0004327) | Abnormality of the vitreous humor | Frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000483) | Astigmatism | Frequent [Orphanet] 4/4 [HPO:probinson] | 16909383 | IBIS | 67 / 7739 | |
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0005041) | Irregular capital femoral epiphysis | 2/4 [HPO:probinson] | 5 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002857) | Genu valgum | Very frequent [Orphanet] 4/4 [HPO:probinson] | 16909383 | IBIS | 144 / 7739 | |
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(HPO:0003370) | Flat capital femoral epiphysis | 2/4 [HPO:probinson] | 15 / 7739 | |||
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(HPO:0002656) | Epiphyseal dysplasia | 25 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | Frequent [Orphanet] | 150 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 16909383 | IBIS | 1232 / 7739 | |
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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