Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)

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Disease Ontology 12 DOID:0080028 OMIM® 57 184250 OMIM Phenotypic Series 57 PS184255 KEGG 36 H02185 MeSH 44 D001848 ICD10 via Orphanet 33 Q77.7 Q77.8

UMLS via Orphanet 71 C0700635 Orphanet 58 ORPHA254 ORPHA93346 MedGen 41 C0700635 SNOMED-CT via HPO 68 103276001 111266001 11687002 15188001 194021007 203534009 205101001 22006008 22325002 237836003 237837007 249710008 254062008 263681008 289457006 299330008 308232009 32958008 343087000 3639002 396232000 422065006 43476002 48334007 52781008 53226007 57190000 61960001 63567004 64217002 71286001 74820003 80967001 87979003 95828007 more UMLS 70 C0700635

MedlinePlus Genetics : ⁴³ 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 metaphyseal dysplasia and coxa vara. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and PI3K-Akt signaling pathway. Affiliated tissues include eye, bone and spinal cord, and related phenotypes are platyspondyly and flared metaphysis

Disease Ontology : ¹² 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).

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition 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). Epidemiology The syndrome has been described in less than 30 patients so far. Clinical description Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life. Etiology This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2). Genetic counseling It is inherited in an autosomal dominant manner.

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 20-May-2021)

KEGG : ³⁶ The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.

UniProtKB/Swiss-Prot : ⁷² Spondyloepimetaphyseal dysplasia, Strudwick type: 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.

Wikipedia : ⁷³ Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... more...

Clinical features from OMIM®:

184250 (Updated 20-May-2021)

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