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alopecia-epilepsy-pyorrhea-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alopecia-epilepsy-pyorrhea-intellectual disability syndrome

MONDO:0007085

Also known as:Shokeir syndromealopecia, epilepsy, pyorrhea, mental subnormalityalopecia, psychomotor epilepsy, pyorrhea, and mental subnormality

Overview

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.

Diagnosis

Biomarker and diagnostic research for alopecia-epilepsy-pyorrhea-intellectual disability 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 alopecia-epilepsy-pyorrhea-intellectual disability syndrome.

244 publications have been identified in PubMed for alopecia-epilepsy-pyorrhea-intellectual disability syndrome. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (24%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Disease patterns and progression	70	29%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:104130

Orphanet

European rare disease database

Orphanet:1008

GARD

Genetic and Rare Diseases Info Center

GARD:607

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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