achondrogenesis type IB

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Disease Overview

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


Synonyms

  • ACG1B
  • Fraccaro achondrogenesis
  • achondrogenesis Fraccaro type
  • achondrogenesis Ib
  • achondrogenesis type 1B
  • achondrogenesis type IB
  • achondrogenesis, Fraccaro type
  • achondrogenesis, Parenti-Fraccaro type
  • achondrogenesis, type 1B
  • achondrogenesis, type IBACG1B
  • Fraccaro achondrogenesis
  • achondrogenesis Fraccaro type
  • achondrogenesis Ib
  • achondrogenesis type 1B
  • achondrogenesis type IB
  • achondrogenesis, Fraccaro type
  • achondrogenesis, Parenti-Fraccaro type
  • achondrogenesis, type 1B
  • achondrogenesis, type IB