Stickler syndrome type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | 90653 |
| OMIM Id: |
108300
609508 |
| 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 dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Stickler syndrome
-Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Type 2 collagen-related bone disorder -Rare genetic disease |
Symptom Information:
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000327) | Hypoplasia of the maxilla | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000541) | Retinal detachment | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0004327) | Abnormality of the vitreous humor | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | 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:0002758) | Osteoarthritis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000926) | Platyspondyly | Frequent [Orphanet] | 150 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0100734) | Abnormality of vertebral epiphysis morphology | Frequent [Orphanet] | 4 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001519) | Disproportionate tall stature | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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