Diastrophic Dysplasia OMIM# 222600

Facial Gestalt

Visualization generated by Face2Gene.

 

Associated Gene

• SLC26A2

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Key Features

  • Limb undergrowth
  • Hitchhiker thumb
  • Thoracic hypoplasia
  • Protuberant abdomen
  • Contractures of the large joints
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London Medical Databases:
Diastrophic Dysplasia OMIM# 222600

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