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facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

MONDO:0009074

Also known as:Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGYDandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY

Overview

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.

Diagnosis

Biomarker and diagnostic research for facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation 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 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.

202 publications have been identified in PubMed for facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	57	33%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:220219

Orphanet

European rare disease database

Orphanet:1970

GARD

Genetic and Rare Diseases Info Center

GARD:2222

Questions for Your Care Team

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facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation 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

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