Autosomal recessive chorioretinopathy-microcephaly syndrome
Synonyms: Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging) growth retardation global developmental delay and intellectual disability (ranging from mild to profound) dysmorphic features (sloping forehead micro/retrognathia prominent ears) and visual impairments (including microphthalmia to anophtalmia generalized retinopathy or multiple punched-out retinal lesions retinal folds with retinal detachment optic nerve hypoplasia strabismus nystagmus). Brain MRI may show reduced cortical size cerebral hemispheres corpus callosum pachygyria symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
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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Autosomal recessive chorioretinopathy-microcephaly 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
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.