Branchioskeletogenital syndrome
Synonyms: BSG syndrome | Elsahy-Waters syndrome
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability distinctive craniofacial features (including brachycephaly facial asymmetry marked hypertelorism blepharochalasis proptosis a broad nose with concave nasal ridge and bulbous nasal tip midface hypoplasia bifid uvula or partial cleft palate and prognathism) progressive dental anomalies (dentigerous cysts radicular dentin dysplasia and early tooth loss) vertebral fusions (particularly of C2-C3) and hypospadias. Hearing loss is an additional observed feature.
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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Branchioskeletogenital syndrome?
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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
For a list of clinical trials in this disease area, please click here.