A rare genetic primary bone dysplasia with increased bone density disorder characterized by bone abnormalities including metaphyseal plaques osteopathia striata marked cranial sclerosis and sclerosis of the ribs and long bones as well as macrocephaly cleft palate hearing loss developmental delay and facial dysmorphism (hypertelorism prominent forehead wide nasal bridge). Hypotonia tracheo-/laryngomalacia and astigmatic myopia are also 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 October 2024
Newly diagnosed with
Mixed sclerosing bone dystrophy with extra-skeletal manifestations?
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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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.