achondrogenesis, type 1A
achondrogenesis, type 1AA sub-form (OMIM:200600) of achondrogenesis type 1, which is a form of chondrodysplasia, characterised by poor ossification in the lumbar vertebrae and no ossification in the sacral, pubic and ischial bones, and resulting in stillbirth or early death. In addition to severe micromelia, type-1A infants have enlarged crania due to marked oedema of soft tissues.
Caused by defects of TRIP11, which encodes a protein that plays a structural role in the Golgi apparatus and a functional role by enhancing thyroid receptor-modulated transcription.
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