Spondyloepimetaphyseal dysplasia, matrilin-3 type
General Information (adopted from Orphanet):
Synonyms, Signs: |
SEMD, matrilin-3 type semd, matn3-related |
Number of Symptoms | 27 |
OrphanetNr: | 156728 |
OMIM Id: |
608728
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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: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
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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:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 | ||||
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(HPO:0010582) | Irregular epiphyses | 19 / 7739 | ||||
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(HPO:0008794) | Dysplastic iliac wings | 1 / 7739 | ||||
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(HPO:0002979) | Bowing of the legs | 28 / 7739 | ||||
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(HPO:0002868) | Narrow iliac wings | 15 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 15121775 | IBIS | 150 / 7739 | ||
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(HPO:0005054) | Metaphyseal spurs | 4 / 7739 | ||||
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(HPO:0000922) | Posterior rib cupping | 6 / 7739 | ||||
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(HPO:0003180) | Flat acetabular roof | 25 / 7739 | ||||
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(HPO:0002983) | Micromelia | 130 / 7739 | ||||
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(HPO:0003173) | Hypoplastic pubic bone | 8 / 7739 | ||||
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(HPO:0001377) | Limited elbow extension | 38 / 7739 | ||||
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(HPO:0001248) | Short tubular bones of the hand | 4 / 7739 | ||||
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(HPO:0010585) | Small epiphyses | 16 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0005257) | Thoracic hypoplasia | 79 / 7739 | ||||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0003300) | Ovoid vertebral bodies | 15121775 | IBIS | 21 / 7739 | ||
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(HPO:0008873) | Disproportionate short-limb short stature | 39 / 7739 | ||||
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(OMIM) | Flat oval-shaped vertebral bodies | 1 / 7739 | ||||
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(OMIM) | Short limbs | 17 / 7739 | ||||
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(OMIM) | Wide metaphyses with lateral spurs | 1 / 7739 | ||||
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(OMIM) | Irregular, small epiphyses | 6 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Underossified ischia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Borochowitz et al. (2004) described a large consanguineous Arab Muslim family with autosomal recessive spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis, and normal hands. Skeletal findings included short, wide, ... |
Molecular genetics OMIM | In affected members of a consanguineous Arab family segregating SEMD, Borochowitz et al. (2004) identified homozygosity for a cys304-to-ser mutation in the MATN3 gene (602109.0005). Heterozygotes in the family had no clinical or radiographic abnormalities. |