Intellectual disability, Birk-Barel type
Synonyms: Intellectual disability-hypotonia-facial dysmorphism syndrome
Intellectual disability Birk-Barel type is a rare genetic syndromic intellectual disability characterized by congenital central hypotonia developmental delay moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly myopathic facies ptosis short and broad philtrum tented upper lip vermillion palatal anomalies mild micro- and/or retrognathia). Patients present reduced facial movements lethargy weak cry transient neonatal hypoglycemia severe feeding difficulties and failure to thrive. Dysphagia particularly of solid food asthenic body build joint contractures and scoliosis are additional features.
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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Intellectual disability, Birk-Barel type?
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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.
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
For a list of clinical trials in this disease area, please click here.