Synonyms: Cherubism-gingival fibromatosis-intellectual disability syndrome
A rare genetic primary bone dysplasia syndrome characterized by bilateral painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism) epilepsy gingival fibromatosis (possibly obscuring teeth) and intellectual disability. Other associated variable features include hypertrichosis stunted growth juvenile rheumatoid arthritis and development of ocular abnormalities (e.g. pigmentary retinopathy optic disc pallor Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body angle and ramus of the mandible and coronoid process.
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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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Curing single-gene disorders
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Syndromes Without A Name (SWAN) Australia
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