Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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OMIM 57 143095 Disease Ontology 12 DOID:0050813 MedGen 42 C1837657 C1840471 MeSH 44 D010009

ICD10 33 Q77.7 SNOMED-CT via HPO 69 263681008 258211005 27272007 194021007 22006008 103276001 15188001 343087000 95828007 95427009 5639000 32337007 43476002 203598005 385522000 55033002 57048009 7890003 88565003 24228002 253549006 30288003 56786000 60573004 48724000 60234000 266249003 79619009 249808002 397932003 203534009 53226007 11399002 697898008 70995007 430099007 271706000 123983008 405773007 57676002 299330008 11301007 54583007 399269003 125617002 417558002 125615005 417076003 58320001 111287006 423230008 35045004 49915006 202281000 more UMLS 73 C1837657 C3672366 C0038015 C2745959 C2931649 more

OMIM : ⁵⁷ 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 brachyolmia, and has symptoms including waddling gait and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Endochondral Ossification and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, heart and skin, and related phenotypes are hypertelorism and short neck

UniProtKB/Swiss-Prot : ⁷⁵ 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.

NIH Rare Diseases : ⁵³ 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.

Genetics Home Reference : ²⁵ 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.

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.

Wikipedia : ⁷⁶ Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

GeneReviews: NBK62112

Clinical features from OMIM:

143095

Search Clinical Trials , 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.