Spondyloepiphyseal dysplasia, MacDermot type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness |
| Number of Symptoms | 21 |
| OrphanetNr: | 163668 |
| OMIM Id: |
184000
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| ICD-10: |
Q77.7 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0007899) | Retinal nonattachment | 10 / 7739 | ||||
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(HPO:0000592) | Blue sclerae | rare [HPO:skoehler] | 85 / 7739 | |||
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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:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0003090) | Hypoplasia of the capital femoral epiphysis | 15 / 7739 | ||||
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(HPO:0002656) | Epiphyseal dysplasia | 25 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0002655) | Spondyloepiphyseal dysplasia | 21 / 7739 | ||||
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(HPO:0008812) | Flattened femoral head | 3 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Sloping acetabula | 1 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
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(MedDRA:10058668) | Clinodactyly | 91 / 7739 | ||||
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(OMIM) | Lumbar lordosis, mild | 2 / 7739 | ||||
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(OMIM) | Prominent heel | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
MacDermot et al. (1987) described a family in which females in 4 successive generations presented with short stature, epiphyseal dysplasia limited to the femoral heads, mild vertebral changes, and sensorineural deafness. Myopia and retinal detachment presenting in adult ... |