Melorheostosis with osteopoikilosis
Synonyms: MSBD syndrome | Mixed sclerosing bone dystrophy
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms) that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
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
Melorheostosis with osteopoikilosis?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.