Epilepsy-microcephaly-skeletal dysplasia syndrome

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Synonyms: Battaglia-Neri syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability hypotonia seizures microcephaly delayed bone maturation and skeletal abnormalities (such as scoliosis or pectus excavatum among others). Dysmorphic features include coarse face hirsutism thick eyebrows broad nasal septum short philtrum large mouth and prominent ears. There have been no further descriptions in the literature since 1996.

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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