Autosomal recessive chorioretinopathy-microcephaly syndrome

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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 Data version December 2023

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