SEMDSTWK
MCID: SPN028
MIFTS: 58
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Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Strudwick Type:
Characteristics:Inheritance:
Spondyloepimetaphyseal Dysplasia, Strudwick Type:
Autosomal dominant 57
Spondylometaphyseal Dysplasia:
Autosomal dominant,Autosomal recessive,X-linked recessive 58
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type:
Autosomal dominant 58
Prevelance:
Spondylometaphyseal Dysplasia:
1-9/100000 (Europe) 58
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type:
<1/1000000 (Worldwide) 58
Age Of Onset:
Spondylometaphyseal Dysplasia:
Infancy 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Eye diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life.People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes in their facial features. Some infants are born with an opening in the roof of the mouth (a cleft palate) and their cheekbones may appear flattened. Eye problems that can impair vision are common, such as severe nearsightedness (high myopia) and tearing of the lining of the eye (retinal detachment). MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondylometaphyseal dysplasia, corner fracture type and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone, spinal cord and eye, and related phenotypes are flared metaphysis and aplasia/hypoplasia involving bones of the extremities Orphanet 58 Spondylometaphyseal dysplasia: Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Spondyloepimetaphyseal dysplasia congenita, strudwick type: Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). Disease Ontology 11 Spondyloepimetaphyseal dysplasia, strudwick type: A spondyloepimetaphyseal dysplasia that has material basis in mutations in the COL2A1 gene which results in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). Spondylometaphyseal dysplasia: An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. UniProtKB/Swiss-Prot: 73 A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. GARD: 19 Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). OMIM®: 57 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). (184250) (Updated 08-Dec-2022) Wikipedia 75 Spondyloepimetaphyseal dysplasia, strudwick type: Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... more... Spondylometaphyseal dysplasia: Spondyloepimetaphyseal dysplasia is a genetic condition affecting the... more... |
Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:58 30 (show all 45)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:184250 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:45
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Interventional clinical trials:
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Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:
MalaCards :
Bone,
Spinal Cord,
Eye
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Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:(show top 50) (show all 158)
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:5 (show all 32)
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:73
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GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Strudwick Type.
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Pathways related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:(show all 27)
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Cellular components related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:
Biological processes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:
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