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holoprosencephaly-caudal dysgenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly-caudal dysgenesis syndrome

MONDO:0016299

Overview

A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).

Diagnosis

Biomarker and diagnostic research for holoprosencephaly-caudal dysgenesis syndrome has been reported in the published literature.

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 holoprosencephaly-caudal dysgenesis syndrome.

203 publications have been identified in PubMed for holoprosencephaly-caudal dysgenesis syndrome. Kisho has analyzed 78 by research type. Research spans Review / Meta-Analysis (56%), Basic Science / Preclinical (15%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Research summaries	44	56%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2165

GARD

Genetic and Rare Diseases Info Center

GARD:2722

Questions for Your Care Team

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holoprosencephaly-caudal dysgenesis syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications