Synonyms: Autosomal recessive intermediate osteopetrosis
A rare genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma anemia and characteristic skeletal radiographic changes such as sandwich vertebra bone-within-bone appearance Erlenmeyer-shaped femoral metaphysis and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
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
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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.
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Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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