Brachydactylous dwarfism, Mseleni type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MJD Mseleni joint disease |
| Number of Symptoms | 12 |
| OrphanetNr: | 2619 |
| OMIM Id: |
613342
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| ICD-10: |
Q77.7 |
| UMLs: |
C2931420 |
| MeSH: |
C537086 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0003019) | Abnormality of the wrist | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0002815) | Abnormality of the knee | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0002763) | Abnormal cartilage morphology | Very frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009811) | Abnormality of the elbow | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Mseleni joint disease is a familial degenerative osteoarthropathy affecting several hundred persons in a remote rural region of northern Zululand, South Africa. The condition presents in childhood and progresses relentlessly, leading to severe physical handicap by early adulthood ... |
| Clinical Description OMIM |
Persons with Mseleni joint disease develop discomfort in the large joints in mid-childhood. The onset is insidious without inflammation or swelling. The weight-bearing joints are primarily affected and by late-childhood walking is difficult (Lockitch et al., 1973; du ... |