Spondylometaphyseal dysplasia - cone-rod dystrophy (Q63005): Difference between revisions
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Revision as of 10:29, 14 August 2026
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy.
| Language | Label | Description | Also known as |
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| default for all languages | ID_430156722 |
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| English | Spondylometaphyseal dysplasia - cone-rod dystrophy |
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. |
