Bainbridge-Ropers syndrome
Synonyms: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly severe feeding difficulties failure to thrive severe global development delay that frequently results in absent/poor speech moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead high-arched thin eyebrows hypertelorism downslanting palpebral fissures long tubular nose with broad tip and prominent nasal bridge and wide mouth with full everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.
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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Bainbridge-Ropers syndrome?
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Advocacy Organizations
ASXL Rare Research Endowment Foundation
Our mission is to support research and education that lead to improved quality of life for individuals with ASXL syndromes.
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.