Infantile spasms-broad thumbs syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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