The authors discuss the current knowledge of Spondyloepiphyseal dysplasia with metatarsal short- ening (SED-MS), formerly Czech dysplasia based on literature sources and their own experience. This rare autosomal dominant (AD) skeletal disorder was first published as an original article entitled “Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes” in Skeletal Radiology (2004) (authors: Ivo Mařík, Olga Maříková, Dana Zemková, Miloslav Kuklík, Kazimierz Kozlowski). SED-MS belongs to type II collagenopathies. This dysplasia is probably caused exclusively by the p.Arg275Cys (R275C, c.823C>T) mutation, which affects the integrity and stability of collagen fibrils. The COL2A1 mutational hot spot is thought to be unique among COL2A1 disorders. SED-MS occurs independently in all parts of the world (at least 13 families described). The main characteristic symp- toms are weather-dependent joint and spinal pain from early childhood, progressive arthropathy with early onset, platyspondyly, shortening of the 3 rd and 4 th metatarsals and in many cases sensori- neural hearing loss. Body height is normal, but arthropathy, which is often accompanied by synovial osteochondromatosis, leads to pain and limitation of movement and early disability. The principal differential diagnosis includes Albright’s hereditary osteodystrophy, Brachydactyly E, Idiopathic juvenile osteoarthritis, Progressive pseudorheumatoid dysplasia, and other type II collagenopathies, specifically Osteoarthritis with mild chondrodysplasia (OMIM 604864), Spondyloperipheral dysplasia (OMIM 271700) and Stanescu type of Spondyloepiphyseal dysplasia (OMIM 616583). The main aim of the authors is to present recent literature findings on SED-MS with a focus on the evolution of characteristic clinical findings and radiological features and orthopaedic treatment options based on the experience with a Czech family (AD transmission in five generations) originally published in Skeletal Radiology in 2004 and other literature data. The second objective deals with the differential diagnosis of type II collagenopathies, specifically comparing patients with the p.Arg275Cys mutation with patients who were previously diagnosed with Czech dysplasia and in whom this mutation was not identified. The two cases presented pro- vide evidence that there is phenotypic overlap between Czech dysplasia and mild forms of spondy- loperipheral dysplasia. Czech dysplasia overlaps with Early-onset osteoarthritis (EO-OA) with mild chondrodysplasia.

Centre for Defects of Locomotor Apparatus l l c

Centre for Defects of Locomotor Apparatus l l c Prague Czech Republic

Department of Diagnostic Imaging and Interventional Radiology Pomeranian Medical University in Szczecin

Dept of Paediatrics

Faculty of Health Care Studies West Bohemia University

Pilsen Czech Republic

Prague Czech Republic

Student Scientific Circle on Diagnostic Imaging of Rare Diseases in Department of Diagnostic Imaging and Interventional Radiology Pomeranian Medical University in Szczecin

Szczecin Poland

University Hospital Motol

Spondyloepifyzární dysplazie s krátkými metatarsy – dříve Česká dysplazie: literární přehled a kasuistiky

Literatura