Achondrogenesis type 1B
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Achondrogenesis type 1B?
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Clinical Trials
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