Infantile spasms-broad thumbs syndrome

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Synonyms: Tsao-Ellingson syndrome

Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay facial dysmorphism (i.e. microcephaly large anterior fontanel hypertelorism downslanting palpebral fissures beaked nose micrognathia) broad thumbs and flexion and/or extension spasms. Bilateral cataracts hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.

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 June 2024

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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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