X-linked mandibulofacial dysostosis
Synonyms: Mandibulofacial dysostosis, Toriello type | X-linked branchial arch syndrome | X-linked mandibulofacial dysostosis with limb anomalies
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly malar hypoplasia with downslanting palpebral fissures highly arched palate apparently low-set and protruding ears micrognathia short stature bilateral hearing loss and learning disability. Occasionally additional features have been observed such as bilateral cryptorchidism cardiac valvular lesions body asymmetry and pectus excavatum.
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 September 2023.
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X-linked mandibulofacial dysostosis?
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Advocacy Organizations
DDX3X Foundation
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
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