Learn About X-Linked Spondyloepiphyseal Dysplasia Tarda

What is the definition of X-Linked Spondyloepiphyseal Dysplasia Tarda?
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by genetic changes in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
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What are the alternative names for X-Linked Spondyloepiphyseal Dysplasia Tarda?
  • Spondyloepiphyseal dysplasia tarda X-linked
  • SED
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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