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 login to view 1 more bullet modalities login to view 2 more bullets Operative occipital-cervical fusion indications login to view 2 more bullets posterior cervical fusion indications login to view 1 more bullet thoracolumbar fusion indications login to view 2 more bullets soft tissue surgical release indications login to view 2 more bullets osteotomies for correction indications login to view 4 more bullets total joint arthroplasty indications login to view 1 more bullet