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GTR Home > Conditions/Phenotypes > Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Synonyms
Spondylometaphyseal dysplasia with cone-rod dystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence. [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCTA, CCTalpha, CGL5, CT, CTA, CTPCT, PCYT1, SMDCRD, PCYT1A
    Summary: phosphate cytidylyltransferase 1A, choline

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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