Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (SMDCRD)

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OMIM 56 608940 KEGG 36 H01821 MeSH 43 D010009 D012174 ICD10 via Orphanet 33 Q77.8 UMLS via Orphanet 72 C1837073

Orphanet 58 ORPHA85167 MedGen 41 C1837073 SNOMED-CT via HPO 68 111266001 23289000 237836003 237837007 246622003 247032003 249704008 249710008 249765007 258211005 28835009 289457006 312917007 367469000 409668002 420990001 422065006 43476002 47944004 563001 57190000 61960001 64217002 65194006 702350003 70397008 707598004 74820003 7973008 82649003 84445001 more UMLS 71 C1837073

OMIM : ⁵⁶ 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 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, 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 bowing of the long bones and platyspondyly

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85167 Definition 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 . Visit the Orphanet disease page for more resources.

KEGG : ³⁶ Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to 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. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically characterized by platyspondyly and metaphyseal dysplasia. Extra-skeletal abnormalities associated with SMDs are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD.

UniProtKB/Swiss-Prot : ⁷³ 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.