Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

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Disease Ontology 12 DOID:0050813 OMIM 58 143095 KEGG 38 H00762 MeSH 45 D010009

ICD10 34 Q77.7 MedGen 43 C1837657 C1840471 SNOMED-CT via HPO 70 103276001 111287006 11301007 11399002 123983008 125615005 125617002 15188001 194021007 202281000 203534009 203598005 22006008 24228002 249808002 253549006 258211005 263051004 263681008 266249003 271706000 27272007 299330008 30288003 32337007 343087000 35045004 385522000 397932003 399269003 405773007 417076003 417558002 423230008 430099007 43476002 48724000 49915006 53226007 54583007 55033002 5639000 56786000 57048009 57676002 58320001 60234000 60573004 697898008 70995007 7890003 79619009 88565003 95427009 95828007 more UMLS 74 C0026707 C0038015 C1837657 C2745959 C2931649 C3672366 more

OMIM : ⁵⁸ Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar clinical features, including dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see 245600) or humerospinal dysostosis. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by Unger et al., 2010). (143095)

MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia congenita and pseudoachondroplasia, and has symptoms including respiratory distress and waddling gait. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Endochondral Ossification. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and genu valgum

Disease Ontology : ¹² A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

Genetics Home Reference : ²⁶ CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.

NIH Rare Diseases : ⁵⁴ Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by mutations in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) mutation, although it can be passed down through families. Treatment is aimed at managing the symptoms and associated complications as they arise.

UniProtKB/Swiss-Prot : ⁷⁶ Spondyloepiphyseal dysplasia with congenital joint dislocations: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.

Wikipedia : ⁷⁷ Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

GeneReviews: NBK62112

Clinical features from OMIM:

143095

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

elosulfase alfa

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.