Catalog

Achondrogenesis type 1B

No MMS code

Link to WHO Definition

Achondrogenesis type 1B – http://id.who.int/icd/entity/1740585991

Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised 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.