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megalencephaly-severe kyphoscoliosis-overgrowth syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megalencephaly-severe kyphoscoliosis-overgrowth syndrome

MONDO:0018710

Overview

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: Long face, Hypertelorism, Arachnodactyly, and Low muscle tone (hypotonia) and others; and common findings: High palate, Macrocephaly, Mandibular prognathia, and Posteriorly rotated ears and others. 54 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Severe intellectual disability, Global developmental delay, Absent speech

Diagnosis

Biomarker and diagnostic research for megalencephaly-severe kyphoscoliosis-overgrowth syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 21 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 megalencephaly-severe kyphoscoliosis-overgrowth syndrome.

205 publications have been identified in PubMed for megalencephaly-severe kyphoscoliosis-overgrowth syndrome. Kisho has analyzed 79 by research type. Research spans Review / Meta-Analysis (63%), Case Report / Case Series (13%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	50	63%

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:457359

GARD

Genetic and Rare Diseases Info Center

GARD:17805

Questions for Your Care Team

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Kisho

megalencephaly-severe kyphoscoliosis-overgrowth 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

megalencephaly-severe kyphoscoliosis-overgrowth 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