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.
- Aliases
- 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