Synonyms: Stratton-Garcia-Young syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay intellectual disability thin habitus with narrow shoulders mesomelic shortness of the arms craniofacial dysmorphism (e.g. long lower face maxillary hypoplasia beak nose short columella prognathia high arched palate obtuse mandibular angle) brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation mitral valve prolapse).
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 October 2024
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Brachydactyly-mesomelia-intellectual disability-heart defects 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
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
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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Clinical Trials
For a list of clinical trials in this disease area, please click here.