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intellectual disability-seizures-macrocephaly-obesity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-seizures-macrocephaly-obesity syndrome

MONDO:0018248

Also known as:Der(8)t(8;12)

Overview

Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.

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: Macroglossia, Macrocephaly, Round face, and Hypertelorism and others; and sometimes findings: Narrow mouth, Thick lower lip vermilion, Coarse facial features, and Epicanthus and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Aggressive behavior, Compulsive behaviors, Delayed speech and language development

Diagnosis

Biomarker and diagnostic research for intellectual disability-seizures-macrocephaly-obesity syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 33 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 intellectual disability-seizures-macrocephaly-obesity syndrome.

202 publications have been identified in PubMed for intellectual disability-seizures-macrocephaly-obesity syndrome. Kisho has analyzed 141 by research type. Research spans Basic Science / Preclinical (30%), Review / Meta-Analysis (28%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Laboratory research	43	30%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:369950

GARD

Genetic and Rare Diseases Info Center

GARD:21583

Questions for Your Care Team

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Kisho

intellectual disability-seizures-macrocephaly-obesity 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

intellectual disability-seizures-macrocephaly-obesity 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