Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)

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OMIM 57 184250 Disease Ontology 12 DOID:0080028 Orphanet 59 ORPHA93346 UMLS via Orphanet 74 C0700635 ICD10 via Orphanet 34 Q77.7

MedGen 42 C0700635 MeSH 44 D001848 KEGG 37 H02185 SNOMED-CT via HPO 69 263681008 396232000 63567004 87979003 194021007 22006008 42059000 57190000 205101001 43476002 22325002 48334007 52781008 249808002 397932003 203534009 53226007 230145002 267036007 271825005 111266001 64217002 254062008 225655006 396275006 414564002 74820003 299330008 299331007 74370006 249710008 61960001 289457006 237836003 237837007 422065006 249670005 448648001 more UMLS 73 C0700635

NIH Rare Diseases : ⁵³ 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 spondylometaphyseal dysplasia, corner fracture type and spondyloepimetaphyseal dysplasia, matrilin-3 related. 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 Integrin Pathway. Affiliated tissues include bone, eye and t cells, and related phenotypes are hypertelorism and osteoarthritis

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 : ²⁵ 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 : 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... more...

Clinical features from OMIM:

184250

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