A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis pectus carinatum short sternum joint hyperextensibility and anbnormal vertebrae) cutis laxa with excessive skin folds around the cheek chin and neck ambiguous genitalia with a micropenis and perineal hypospadia an umbilical hernia intellectual disability premature aged appearance and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls ptsosis high and broad nasal root low set ears and small chin. Enamel hypocalcification abnormal modelling of tubular bones and reduced cutis laxa may become apparent later on.
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 December 2023
Newly diagnosed with
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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