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infantile spasms-broad thumbs syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile spasms-broad thumbs syndrome

MONDO:0017852

Also known as:Tsao-Ellingson syndromeinfantile spasms broad thumbs

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal cranial suture/fontanelle morphology, Hypertelorism, Micrognathia, and Convex nasal ridge and others.

Organ System	Phenotype Count	Example Features
Eyes	2	Optic disc pallor, Cataract
Brain and nerves

Diagnosis

Biomarker and diagnostic research for infantile spasms-broad thumbs syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile spasms-broad thumbs syndrome.

166 publications have been identified in PubMed for infantile spasms-broad thumbs syndrome. Research spans Review / Meta-Analysis (53%), Basic Science / Preclinical (16%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	88	53%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3173

GARD

Genetic and Rare Diseases Info Center

GARD:3002

Questions for Your Care Team

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Kisho

infantile spasms-broad thumbs syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Guest Blog: How Collaboration Drives Early Diagnosis and Better Outcomes During Infantile Spasms Awareness Week

infantile spasms-broad thumbs syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Guest Blog: How Collaboration Drives Early Diagnosis and Better Outcomes During Infantile Spasms Awareness Week