X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Synonyms: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability and dysmorphic facial features (such as facial asymmetry prominent forehead short palpebral fissures low nasal bridge smooth and long philtrum thin upper lip and low-set posteriorly rotated dysplastic ears) exclusively affecting females. Additional reported manifestations include short stature choanal atresia scoliosis congenital ocular dental cardiac and urogenital anomalies as well as hypotonia seizures and structural brain abnormalities among others.
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 April 2024
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X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
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.
Clinical Trials
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