SMDCRD
MCID: SPN151
MIFTS: 32
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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (SMDCRD)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:
Characteristics:Orphanet epidemiological data:58
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases
ICD10:
33
Orphanet: 58
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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. |
Diseases related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:![]() |
Human phenotypes related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:58 31 (show all 44)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:608940 |
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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:40
Bone,
Eye
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Articles related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:
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ClinVar genetic disease variations for Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:6
UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:73
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