Optic atrophy-intellectual disability syndrome
Synonyms: BBSOAS | Bosch-Boonstra-Schaaf optic atrophy syndrome
Optic atrophy-intellectual disability syndrome is a rare hereditary syndromic intellectual disability characterized by developmental delay intellectual disability and significant visual impairment due to optic nerve atrophy optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia oromotor dysfunction seizures autism spectrum disorder and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
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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Optic atrophy-intellectual disability 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
NR2F1 Foundation
The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 gene variants through education, advocacy and research.
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.