Smed Strudwick Type malady
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Aliases & Descriptions for Smed Strudwick Type:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Characteristics (Orphanet epidemiological data):48
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
Genetics Home Reference:21 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.
MalaCards based summary: Smed Strudwick Type, also known as spondyloepimetaphyseal dysplasia, strudwick type, is related to axial spondylometaphyseal dysplasia and spondylometaphyseal dysplasia with cone-rod dystrophy, and has symptoms including platyspondyly, abnormality of the metaphyses and gait disturbance. An important gene associated with Smed Strudwick Type is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include bone and lung.
Disease Ontology:8 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).
OMIM:46 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...
Symptoms by clinical synopsis from OMIM:184250
Clinical features from OMIM:184250
Symptoms:48 (show all 25)
HPO human phenotypes related to Smed Strudwick Type:(show all 50)
MalaCards organs/tissues related to Smed Strudwick Type:31
UniProtKB/Swiss-Prot genetic disease variations for Smed Strudwick Type:63
Clinvar genetic disease variations for Smed Strudwick Type:5
Search GEO for disease gene expression data for Smed Strudwick Type.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet