Synonyms: DNMT3A-related overgrowth syndrome | Tatton-Brown-Rahman overgrowth syndrome
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth mild to moderate intellectual disability and subtle distinctive facial features which often become apparent during adolescence such as round face low-set thick horizontal eyebrows narrow palpebral fissures and prominent upper-central incisors. Joint hypermobility hypotonia and scoliosis are common.
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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Tatton Brown Rahman Syndrome Community
The Tatton Brown Rahman Syndrome Community aims to support all families affected by TBRS and advance research toward interventions.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.