Achondrogenesis type 1B

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Synonyms: Achondrogenesis, Parenti-Fraccaro type

A rare lethal type of achondrogenesis 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.

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 Data version June 2024

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Achondrogenesis type 1B?

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