Spondylometaphyseal dysplasia, Schmidt type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE Spondylometaphyseal dysplasia, Algerian type spondylometaphyseal dysplasia with severe genu valgum |
| Number of Symptoms | 32 |
| OrphanetNr: | 93316 |
| OMIM Id: |
184253
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| ICD-10: |
Q77.8 |
| 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: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Spondylometaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Type 2 collagen-related bone disorder -Rare genetic disease |
Symptom Information:
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0003865) | Bowed humerus | 5 / 7739 | ||||
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(HPO:0003185) | Short sacroiliac notch | 7 / 7739 | ||||
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(HPO:0001248) | Short tubular bones of the hand | 4 / 7739 | ||||
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(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0002657) | Spondylometaphyseal dysplasia | 12 / 7739 | ||||
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(HPO:0002834) | Flared femoral metaphysis | 6 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0002857) | Genu valgum | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0006434) | Hypoplasia of proximal radius | 3 / 7739 | ||||
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(HPO:0100255) | Metaphyseal dysplasia | 26 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0001498) | Carpal bone hypoplasia | 17 / 7739 | ||||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000907) | Anterior rib cupping | 12 / 7739 | ||||
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(HPO:0008839) | Hypoplastic pelvis | 18 / 7739 | ||||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0001367) | Abnormal joint morphology | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0030292) | Tibial metaphyseal irregularity | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Kyphoscoliosis, progressive | 3 / 7739 | ||||
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(OMIM) | Severe metaphyseal changes of long bones | 1 / 7739 | ||||
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(MedDRA:10061415) | Wrist deformity | 1 / 7739 | ||||
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(OMIM) | Distal ulnar shortening | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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