Diencephalic-mesencephalic junction dysplasia

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Diencephalic-mesencephalic junction dysplasia is a rare genetic non-syndromic cerebral malformation characterized by severe intellectual disability progressive postnatal microcephaly axial hypotonia spastic quadriparesis seizures and facial dysmorphism (bushy eyebrows hairy forehead broad nasal root long flat philtrum V-shaped upper lip). Additionaly talipes equinovarus non-obstructive cardiomyopathy persistent hyperplastic primary vitreous obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging the ‘butterfly sign’ is characterisitcally observed and cortical calcifications agenesis of the corpus callosum ventriculomegaly brainstem dysplasia and cerebellar vermis hypoplasia have also been described.

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 July 2024

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Advocacy Organizations

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.

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Clinical Trials

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