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microcephaly-cardiac defect-lung malsegmentation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-cardiac defect-lung malsegmentation syndrome

MONDO:0011050

Also known as:Ellis-Yale-Winter syndromemicrocephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesismicrocephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs

Overview

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.

GeneticsAutosomal recessive

Patient Orgs1 organizations · National MALS Foundation (Median Arcuate Ligament Syndrome)

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: Cleft palate, Microcephaly, Truncus arteriosus, and Preauricular pit and 7 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Microcephaly
Kidneys and urinary system

Diagnosis

Biomarker and diagnostic research for microcephaly-cardiac defect-lung malsegmentation 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 microcephaly-cardiac defect-lung malsegmentation syndrome.

101 publications have been identified in PubMed for microcephaly-cardiac defect-lung malsegmentation syndrome. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (16%), and Diagnostic / Biomarker (5%).

Research Type	Count	% of Total
Research summaries	60	69%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

National MALS Foundation (Median Arcuate Ligament Syndrome)Primary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601355

Orphanet

European rare disease database

Orphanet:2516

GARD

Genetic and Rare Diseases Info Center

GARD:2098

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?
→How can I connect with National MALS Foundation (Median Arcuate Ligament Syndrome) and other patient organizations for support?

← Back to All Diseases

Kisho

microcephaly-cardiac defect-lung malsegmentation syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephaly-cardiac defect-lung malsegmentation syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications