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A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
ORPHA:932Classification level: Disorder
A summary on this disease is available in Deutsch (2003) Italiano (2003) Português (2003) Español (2014) Français (2014) Nederlands (2014)
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