Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth global developmental delay intellectual disability and dysmorphic facial features (including frontal bossing long face sparse eyebrows hypertelorism downslanting palpebral fissures and prognathism). Patients may exhibit tall stature with dolichostenomelia arachnodactyly kyphoscoliosis and joint laxity as well as neurologic manifestations such as hypotonia gait ataxia or seizures. Brain imaging may show increased white matter volume thick corpus callosum or small cerebellum.

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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Megalencephaly-severe kyphoscoliosis-overgrowth syndrome?

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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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