SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 30 |
| OrphanetNr: | |
| OMIM Id: |
609616
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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: |
Sporadic [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000541) | Retinal detachment | 87 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0006134) | Enlarged metacarpal epiphyses | 1 / 7739 | ||||
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(HPO:0006370) | Distal ulnar epiphyseal stippling | 1 / 7739 | ||||
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(HPO:0003375) | Narrow greater sacrosciatic notches | 13 / 7739 | ||||
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(HPO:0003173) | Hypoplastic pubic bone | 8 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0002866) | Hypoplastic iliac wing | 34 / 7739 | ||||
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(HPO:0000887) | Cupped ribs | 9 / 7739 | ||||
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(HPO:0010231) | Enlarged epiphyses of the phalanges of the hand | 1 / 7739 | ||||
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(HPO:0001216) | Delayed ossification of carpal bones | 30 / 7739 | ||||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0004568) | Beaking of vertebral bodies | 19 / 7739 | ||||
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(HPO:0010230) | Cone-shaped epiphyses of the phalanges of the hand | 34 / 7739 | ||||
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(HPO:0003301) | Irregular vertebral endplates | 25 / 7739 | ||||
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(HPO:0001837) | Broad toe | 13 / 7739 | ||||
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(HPO:0010579) | Cone-shaped epiphysis | 54 / 7739 | ||||
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(HPO:0005011) | Mesomelic arm shortening | 13 / 7739 | ||||
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(HPO:0001773) | Short foot | 86 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0003180) | Flat acetabular roof | 25 / 7739 | ||||
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(HPO:0003498) | Disproportionate short stature | 28 / 7739 | ||||
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(OMIM) | Upper limb mesomelic shortening | 1 / 7739 | ||||
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(OMIM) | Megaepiphyses | 2 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Pubic punctate calcification (stippling) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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