Spondyloepiphyseal Dysplasia

Reference work entry

Spondyloepiphyseal dysplasia (SED) refers to a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Two major types (congenita and tarda) will be discussed here.

Synonyms and Related Disorders

SED congenita; SED tarda

Genetics/Basic Defects

  1. 1.
    Genetic basis of SED
    1. a.
      SED congenita
      1. i.

        Autosomal dominant inheritance

      2. ii.

        Spondyloepiphyseal dysplasia congenita gene mapped to chromosome 12q13

      3. iii.

        Gonadal mosaicism reported

      4. iv.

        Advanced paternal age recognized as a risk factor

    2. b.
      SED tarda
      1. i.
        X-linked recessive inheritance
        1. a)

          Most common

        2. b)

          The gene mapped to Xp22.12-p22.31

      2. ii.

        Autosomal recessive inheritance

      3. iii.

        Autosomal dominant inheritance

  2. 2.
    Molecular basis of SED (Cole et al. 1993)
    1. a.
      SED congenita
      1. i.

        Caused by mutations in COL2A1 gene, which encodes the α1(II) chain of type II collagen. The gene was mapped on chromosome 12.

      2. ii.

        The mutations result in abnormal type II...


Femoral Head Vertebral Body Lumbar Lordosis Posterior Spinal Fusion Autosomal Recessive Form 
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