Table 2.

SLC26A2 Skeletal Disorder Spectrum

DisorderComment
Achondrogenesis type 1B
  • Extremely short limbs w/short fingers & toes; hypoplasia of the thorax; & protuberant abdomen
  • Hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton
  • Death occurs prenatally or shortly after birth
Atelosteogenesis type 2
  • Commonly lethal in perinatal period
  • Presents around birth or before
  • Chondrodysplasia w/clinical & histologic characteristics resembling those of DTD but more pronounced
Diastrophic dysplasia (DTD)
  • Short limb type of dwarfism assoc w/clubfeet & other joint restrictions incl "hitchhiker thumbs"
  • Progressive scoliosis in childhood
SLC26A2-related multiple epiphyseal dysplasiaTopic of this GeneReview

From: SLC26A2-Related Multiple Epiphyseal Dysplasia

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