X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk and neck, and their arms appear disproportionately long. Impaired growth of the spinal bones (vertebrae) causes the short stature seen in this disorder. The spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and decreased mobility of the elbow and hip joints. Arthritis often develops in early adulthood, typically affecting the hip joints and spine.

Different Conditions

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Defects in O-xylosyl/N-acetylgalactosaminylglycan synthesis

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia which typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone.

Also Known As

  • Solute carrier family 35 deficiency
  • SLC35D1-CDG
  • Related ICD 10 COde
    ICD 10 Code Q77.7

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    Metatropic dysplasias

    Metatropic dysplasia is a severe spondyloepimetaphyseal dysplasia characterised in infancy by long trunk and short extremities.
    Related ICD 10 COde
    ICD 10 Code Q77.7

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    Spondyloepiphyseal or spondyloepimetaphyseal dysplasias

    Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
    Related ICD 10 COde
    ICD 10 Code Q77.7

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    Syndromes with skeletal anomalies as a major feature

    Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterized by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).

    Signs And Symptoms

  • Dysplasia (morphologic abnormality)
  • Organ Affected

    Entire vertebral column (body structure)|Entire spine (body structure)

    Abbreviated Terms

  • spondyloepiphyseal dysplasia
  • spondyloepiphyseal dysplasia congenita
  • spondyloepiphyseal dysplasia congenita group
  • spondyloepimetaphyseal dysplasia
  • SED - [spondyloepiphyseal dysplasia]
  • SEDC - [spondyloepiphyseal dysplasia congenita]
  • Related ICD 10 COde
    ICD 10 Code Q77.7

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