Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)

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Disease Ontology 12 DOID:0080028 OMIM 58 184250 KEGG 38 H02185 MeSH 45 D001848 ICD10 via Orphanet 35 Q77.7

UMLS via Orphanet 75 C0700635 Orphanet 60 ORPHA93346 MedGen 43 C0700635 SNOMED-CT via HPO 70 111266001 194021007 203534009 205101001 22006008 22325002 225655006 230145002 237836003 237837007 249670005 249710008 249808002 254062008 263681008 267036007 271825005 289457006 299330008 299331007 396232000 396275006 397932003 414564002 42059000 422065006 43476002 448648001 48334007 52781008 53226007 57190000 61960001 63567004 64217002 74370006 74820003 87979003 more UMLS 74 C0700635

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93346Disease definitionSpondyloepimetaphyseal 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).EpidemiologyThe syndrome has been described in less than 30 patients so far.Clinical descriptionCleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.EtiologyThis condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).Genetic counselingIt is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, eye and t cells, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

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).

Genetics Home Reference : ²⁶ 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.

OMIM : ⁵⁸ 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)

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... more...

Clinical features from OMIM:

184250

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