Blepharophimosis - radioulnar synostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Jorgenson-Lenz syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 1256 |
| OMIM Id: |
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| ICD-10: |
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| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ptosis
-Rare eye disease -Rare genetic disease Syndrome with synostosis or other joint formation defect -Rare bone disease -Rare developmental defect during embryogenesis Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0000482) | Microcornea | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002974) | Radioulnar synostosis | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0009623) | Proximal placement of thumb | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Occasional [Orphanet] | 125 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Occasional [Orphanet] | 244 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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