Mixed sclerosing bone dystrophy with extra-skeletal manifestations
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 April 2024
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Mixed sclerosing bone dystrophy with extra-skeletal manifestations?
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