Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

Alias:

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type

Chondrodysplasia with Multiple Dislocations

Spondyloepiphyseal Dysplasia, Omani Type

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type

Kozlowski Celermajer Tink Syndrome

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis

Sdcd, Chst3 Type

Sedcjd

Cdmd

Hsd

Humero-Spinal Dysostosis with Congenital Heart Disease

Spondyloepiphyseal Dysplasia Omani Type

Spondyloepiphyseal Dysplasia, Congenita

Larsen Syndrome, Autosomal Recessive

Autosomal Recessive Larsen Syndrome

Sed with Luxations, Chst3 Type

Recessive Larsen Syndrome

Mucopolysaccharidosis Iv

Chst3-Related Dysplasia

Chst3 Deficiency

Sed, Omani Type

Sed Omani Type

Omani Type

Sed

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia congenita and pseudoachondroplasia, 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 Infectious disease and Metabolism. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are scoliosis and hypertelorism

Related ID：

MALACARDS：SPN209

OMIM：143095

MESH：D010009