diastrophic dysplasia

Pathology

osteochondrodysplasia

Genetics

• autosomal recessive
• associated with defects in SLC26A2

Clinical manifestations

• dwarfism
• spinal deformation
  • cervical subluxation
  • kyphosis
  • scoliosis
• joint abnormalities
  • brachydactyly
  • hitchhiker thumb
• ossified pinnae
• cleft palate

More general terms

• developmental bone disorder
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/222600