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epilepsy-telangiectasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy-telangiectasia syndrome

MONDO:0009188

Also known as:epilepsy telangiectasiaintellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiencymental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency

Overview

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

GeneticsAutosomal recessive

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: Seizure, Abnormality of metabolism/homeostasis, Abnormal facial shape, and Visible small blood vessels in the eye (conjunctival telangiectasia) and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Intellectual disability

Diagnosis

Biomarker and diagnostic research for epilepsy-telangiectasia syndrome has been reported in the published literature.

Prognosis

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 epilepsy-telangiectasia syndrome.

212 publications have been identified in PubMed for epilepsy-telangiectasia syndrome. Kisho has analyzed 122 by research type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	87	71%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:226850

Orphanet

European rare disease database

Orphanet:1951

GARD

Genetic and Rare Diseases Info Center

GARD:2168

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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epilepsy-telangiectasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

epilepsy-telangiectasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications