Spondyloepiphyseal dysplasia

Last revised by Dr Derek Smith on 31 Mar 2021

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. 

  • short neck
  • short trunk with protruding abdomen 
  • normal IQ
  • spine
  • limbs
    • mostly in shoulder, hip and knee
      • abnormal, underdeveloped proximal epiphysis  
    • short proximal limbs with normal size hands and feet 
    • coxa vara and waddling gait

Two forms have been described:

  1. congenita:
    • autosomal dominant with variable phenotypic expression
    • abnormalities present at birth, short limbs (proximal and mid), normal size hands and feet
    • due to abnormal synthesis of type 2 collagen
  2. tarda:
    • X-linked recessive 
    • normal appearance at birth, short trunk becomes apparent in adolescence or adulthood
  • first test to survey the abnormalities 
  • platyspondyly
  • bulbous and pear-shaped vertebrae in congenital form
  • heaped up vertebrae in tarda form
  • vertebral hypoplasia
  • femoral head flattening and late epiphyseal development
  • large and dolichocephalic skull
  • metaphyseal widening with rhizomelic shortening
  • odontoid process hypoplasia
  • absent calcaneal and knee epiphysis at birth

Treatment is supportive based on skeletal abnormalities. Normal life span is expected.

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Cases and figures

  • Case 1
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