Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Synonyms: SMD-CRD
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. So far it has been described in eight individuals. Transmission appears to be autosomal recessive.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome?
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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