Achondrogenesis
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Achondrogenesis?
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Clinical Trials
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