Infantile spasms-broad thumbs syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version June 2024

Newly diagnosed with
Infantile spasms-broad thumbs syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.