Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (SMDCRD)

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OMIM 57 608940 Orphanet 59 ORPHA85167 ICD10 via Orphanet 34 Q77.8 UMLS via Orphanet 74 C1837073 MedGen 42 C1837073

MeSH 44 D010009 D012174 KEGG 37 H01821 SNOMED-CT via HPO 69 258211005 82649003 57190000 28835009 312917007 23289000 367469000 7973008 246622003 409668002 563001 65194006 47944004 707598004 249704008 43476002 84445001 111266001 64217002 702350003 74820003 249710008 61960001 289457006 237836003 237837007 422065006 247032003 70397008 420990001 249765007 more UMLS 73 C1837073

OMIM : ⁵⁷ 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. (608940)

MalaCards based summary : Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, also known as smd-crd, is related to cone-rod dystrophy 2 and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy is PCYT1A (Phosphate Cytidylyltransferase 1, Choline, Alpha), and among its related pathways/superpathways are Phosphonate and phosphinate metabolism and Glycerophospholipid metabolism. Affiliated tissues include bone and eye, and related phenotypes are nystagmus and scoliosis

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85167Disease definitionSpondylometaphyseal 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁵ Spondylometaphyseal dysplasia with cone-rod dystrophy: A disorder 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.

Clinical features from OMIM:

608940

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy.