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.
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
Complex lethal osteochondrodysplasia?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.