Metaphyseal anadysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Maroteaux-Verloes-Stanescu syndrome Regressive metaphyseal dysplasia |
| Number of Symptoms | 30 |
| OrphanetNr: | 1040 |
| OMIM Id: |
602111
613073 |
| ICD-10: |
Q78.5 |
| UMLs: |
C0432226 |
| MeSH: |
C537351 |
| MedDRA: |
|
| Snomed: |
254085009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 27 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple metaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
|
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(HPO:0002980) | Femoral bowing | 36 / 7739 | ||||
|
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0002869) | Flared iliac wings | 20 / 7739 | ||||
|
|
(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
|
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(HPO:0003031) | Ulnar bowing | 16 / 7739 | ||||
|
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(HPO:0006603) | Flared, irregular rib ends | 2 / 7739 | ||||
|
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
|
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(HPO:0004566) | Pear-shaped vertebrae | 3 / 7739 | ||||
|
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
|
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(HPO:0002814) | Abnormality of the lower limb | Very frequent [Orphanet] | 23 / 7739 | |||
|
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(HPO:0001377) | Limited elbow extension | 38 / 7739 | ||||
|
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(HPO:0002758) | Osteoarthritis | 78 / 7739 | ||||
|
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(HPO:0010585) | Small epiphyses | 16 / 7739 | ||||
|
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(HPO:0008476) | Irregular sclerotic endplates | 3 / 7739 | ||||
|
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(HPO:0002982) | Tibial bowing | 36 / 7739 | ||||
|
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 | ||||
|
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
|
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
|
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(HPO:0003015) | Flared metaphysis | 44 / 7739 | ||||
|
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
|
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(HPO:0003021) | Metaphyseal cupping | 16 / 7739 | ||||
|
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
|
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
|
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(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
|
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(HPO:0003071) | Flattened epiphysis | 14 / 7739 | ||||
|
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(HPO:0002986) | Radial bowing | 27 / 7739 | ||||
|
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|