Complex lethal osteochondrodysplasia
Synonyms: Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
A rare genetic primary bone dysplasia with decreased bone density characterized by fetal lethality severe hypomineralization of the entire skeleton barrel shaped thorax with short ribs multiple intrauterine fractures of ribs and long bones ascites pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain lungs and kidneys have also been associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Complex lethal osteochondrodysplasia?
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
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