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epilepsy-microcephaly-skeletal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy-microcephaly-skeletal dysplasia syndrome

MONDO:0011048

Also known as:Battaglia-Neri syndromeepilepsy - microcephaly - skeletal dysplasiaintellectual disability, microcephaly, epilepsy, and coarse face

Overview

Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.

Diagnosis

Biomarker and diagnostic research for epilepsy-microcephaly-skeletal dysplasia 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-microcephaly-skeletal dysplasia syndrome.

305 publications have been identified in PubMed for epilepsy-microcephaly-skeletal dysplasia syndrome. Kisho has analyzed 53 by research type. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	38	72%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601352

Orphanet

European rare disease database

Orphanet:1948

GARD

Genetic and Rare Diseases Info Center

GARD:836

Questions for Your Care Team

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epilepsy-microcephaly-skeletal dysplasia 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

Recent Publications