spondyloepiphyseal dysplasia

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

Clinical presentation

  • 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
    • scoliosis exaggerated lumbar lordosis 
    • coxa vara and waddling gate


Two forms have been described:

  • 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
  • tarda:
    • x-linked recessive 
    • normal appearance at birth, short trunk becomes apparent in adolescence or adulthood
  • Associations

    Radiographic features

    Plain radiograph
    • first test to survey the abnormalities 
    • platyspondyly
    • bulbous and pear shaped vertebrae in congenita
    • heaped up vertebrae in tarda
    • 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 and prognosis

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

    Siehe auch:
    und weiter: