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Updated: Jun 17 2021

Diastrophic Dysplasia

Images photo_moved.jpg ear - colorado_moved.jpg thumb - colorado_moved.jpg kyphosis_moved.jpg
  • summary
    • Diastrophic Dysplasia is a rare congenital disorder caused by an autosomal recessive mutation in the DTDST gene leading to a defect in the sulfate transporter protein. Patients present with a form of short-limbed dwarfism with characteristic features such as cauliflower ears, hitchhiker thumbs, and severe cervical kyphosis. 
    • Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test exists due to the variety of genetic mutations.
    • Treatment involves a multidisciplinary approach to improve and maintain function. Surgical spinal instrumentation and fusion are indicated in patients with atlantoaxial instability, cervical myelopathy, or progressive scoliosis.
  • Epidemiology
    • Demographics 
      • more common in Finland
        • rare in rest of world
  • Etiology
    • Genetics
      • autosomal recessive
      • mutation in DTDST gene (SLC26A2) on chromosome 5
        • encodes for sulfate transporter protein
        • mutation is present in 1 in 70 Finnish citizens
        • leads to undersulfation of cartilage proteoglycan
  • Presentation
    • Physical exam and syndrome features
      • short stature ("twisted dwarf")
        • rhizomelic shortening
      • cleft palate (60%)
      • cauliflower ears (80%)
      • poorly developed UE
      • hitchhikers thumb
      • thoracolumbar scoliosis
      • severe cervical kyphosis
      • hip and knee contractures
      • genu valgum
      • skewfoot (serpentine or Z foot)
        • tarsometatarsal adductus and valgus hindfoot
      • rigid clubfeet (equinocavovarus)
  • Imaging
    • Radiographs
      • recommended views
        • AP and lateral of cervical spine and thoracolumbar spine
        • three joint standing lower extremity films to assess alignment
    • Ultrasound
      • can be used to make diagnosis prenatally
  • Treatment
    • Nonoperative
      • observation and supportive treatment
        • indications
          • most patients
        • modalities
          • cauliflower ears frequently repsond to early treatment with compressive bandages
          • cervical kyphosis frequently resolves spontaneously
    • Operative
      • occipital-cervical fusion
        • indications
          • atlantoaxial instability with neurologic symptoms
            • risk of quadriplegia is a concern
      • posterior cervical fusion
        • indications
          • cervical kyphosis that does not resolve spontaneously
      • thoracolumbar fusion
        • indications
          • kyphoscoliosis of thoracolumbar spine
          • if progressive may require ASF / PSF
      • soft tissue surgical release
        • indications
          • early foot ankle deformity after initial period of casting
          • severe joint contractures (hip and knee)
      • osteotomies for correction
        • indications
          • progressive valgus deformity of lower extremities (with dislocated patellae)
          • resistant or recurrent clubfeet
          • distal femoral extension osteotomies for fixed knee flexion contractures
          • valgus intertrochanteric osteotomies +/- acetabuloplasty for early hip subluxation
      • total joint arthroplasty
        • indications
          • end stage osteoarthritis of hips
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