Synonyms: Cranio-facio-digito-genital syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit facial dysmorphism (a highly arched palate pointed chin and small mouth hypotelorism a long nose and large protruding ears) arachnodactyly hypogenitalism (undescended testes and hypospadias) and failure to thrive.
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 October 2023.
Newly diagnosed with
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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
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