Achondrogenesis type IB
Achondrogenesis type IB
Definition
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 — per MONDO