Name Spondyloepimetaphyseal Dysplasia, Strudwick Type
Synonyms DAPPLED METAPHYSIS SYNDROME , SEMD, STRUDWICK TYPE , SEMDC , SMED, STRUDWICK TYPE , SMED, TYPE I , SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE , SPONDYLOMETAPHYSEAL DYSPLASIA; SMD , STRUDWICK SYNDROME
Classification bone, developmental, genetic
Phenotypes Anterior rib cupping; Autosomal dominant inheritance; Brachydactyly; C1-C2 subluxation; Cleft palate; Club-shaped proximal femur; Coxa vara; Delayed pubic bone ossification; Genu valgum; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic pubic bone; Inguinal hernia; Metaphyseal dappling; Metaphyseal irregularity; Myopia; Narrow greater sciatic notch; Pectus carinatum; Pes planus; Platyspondyly; Protuberant abdomen; Scoliosis; Severe short stature; Spondyloepimetaphyseal dysplasia
Associated Genes COL2A1 (Withdrawn symbols: AOM, SEDC, STL1 )
Mouse Orthologs Col2a1 (Withdrawn symbols: Col2a, Col2a-1, Dmm, Lpk, Rgsc413, Rgsc856 )
Source
OMIM:184250 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)