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Up to: Inborn errors of metabolism · Mineral metabolism disease · SLC26A2-related skeletal dysplasia · Achondrogenesis
Achondrogenesis type IB
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.
This condition has no sub-types.