Achondrogenesis type 1B

From BugSigDB

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), 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.
  • ACG1B
  • achondrogenesis Fraccaro type
  • achondrogenesis type 1B
  • achondrogenesis type IB
  • achondrogenesis, Fraccaro type
  • Achondrogenesis, Parenti-Fraccaro type
  • achondrogenesis, Parenti-Fraccaro type
  • achondrogenesis, type 1B
  • achondrogenesis, type IB
  • Fraccaro achondrogenesis