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lethal hydranencephaly-diaphragmatic hernia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal hydranencephaly-diaphragmatic hernia syndrome

MONDO:0018810

Overview

Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.

Diagnosis

Biomarker and diagnostic research for lethal hydranencephaly-diaphragmatic hernia 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 lethal hydranencephaly-diaphragmatic hernia syndrome.

12 publications have been identified in PubMed for lethal hydranencephaly-diaphragmatic hernia syndrome. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	5	42%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:480528

GARD

Genetic and Rare Diseases Info Center

GARD:21978

Questions for Your Care Team

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lethal hydranencephaly-diaphragmatic hernia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications