Name Spondylometaphyseal Dysplasia, Corner Fracture Type
Synonyms SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE
Classification bone, developmental, genetic
Phenotypes Autosomal dominant inheritance; Coxa vara; Genu varum; Hyperconvex vertebral body endplates; Hypoplasia of the odontoid process; Metaphyseal irregularity; Ovoid vertebral bodies; Pectus carinatum; Scoliosis; Short femoral neck; Short stature; Spondylometaphyseal dysplasia; Waddling gait
Associated Genes FN1 (Withdrawn symbols: CIG, FINC, GFND2, LETS, MSF )
Mouse Orthologs Fn1 (Withdrawn symbols: Fn-1 )
Source
OMIM:184255 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)