Holoprosencephaly-radial heart renal anomalies syndrome
Synonyms: Steinfeld syndrome
A rare multiple congenital anomalies syndrome characterised by holoprosencephaly predominantly radial limb deficiency (absent thumbs phocomelia) heart defects kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies cleft lip/palate microphthalmia absent nose dysplastic ears hearing loss colobomas of the iris and retina and/or bifid uvula.
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 September 2023.
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Holoprosencephaly-radial heart renal anomalies syndrome?
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Advocacy Organizations
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.
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
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.
Clinical Trials
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