Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

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Disease Ontology 12 DOID:0050813 OMIM® 57 143095 KEGG 36 H00762 H02462 MeSH 44 D010009 ICD10 32 Q77.7 ICD10 via Orphanet 33 Q74.8

UMLS via Orphanet 72 C2931649 Orphanet 58 ORPHA263463 MedGen 41 C1837657 C1840471 SNOMED-CT via HPO 68 103276001 111287006 11301007 11399002 123983008 125615005 125617002 15188001 194021007 202281000 203534009 203598005 22006008 24228002 249808002 253549006 258211005 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 71 C0026707 C0038015 C1837657 C2745959 C2931649 C3672366 more

MedlinePlus Genetics : ⁴³ 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.Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene.

MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia tarda, x-linked and spondyloepiphyseal dysplasia congenita, 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 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Phospholipase-C Pathway. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and flexion contracture

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.

GARD : ²⁰ 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.

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) (Updated 05-Mar-2021)

KEGG : ³⁶ Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita, pseudoachondroplasia, and SED tarda.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

GeneReviews: NBK62112

Clinical features from OMIM®:

143095 (Updated 05-Mar-2021)

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