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.

Also known as: achondrogenesis Ib, achondrogenesis type IB, achondrogenesis, Parenti-Fraccaro type, ACG1B, Fraccaro achondrogenesis, achondrogenesis type 1B, achondrogenesis, Fraccaro type, achondrogenesis, type 1B

1 clinical trial for this condition and its sub-types, 0 tagged with Achondrogenesis type IB itself.