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
  • atlanto-axial instability
  • craniovertebral junction stenosis
  • platyspondyly
  • scoliosis
  • exaggerated lumbar lordosis
• 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

Pathology

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

Associations

• myopia
• retinal haemorrhage
• hearing loss
• nephrotic syndrome

Complications

• osteoarthritis

Radiographic features

Plain radiograph

• 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 and prognosis

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

Differential diagnosis

• Morquio syndrome (congenita / tarda) 
• multiple epiphyseal dysplasia (tarda) 
• spondyloepimetaphyseal dysplasia
• Kniest dysplasia (congenita) 
• metatropic dysplasia (congenita) 
• Perthes disease