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craniofrontonasal dysplasia-Poland anomaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofrontonasal dysplasia-Poland anomaly syndrome

MONDO:0015464

Also known as:Webster-Deming syndrome

Overview

Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.

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: Hypertelorism, Wide nose, Broad nasal tip, and Craniosynostosis and others; and common findings: Bifid uterus, Wide mouth, Short lingual frenulum, and High palate and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Craniosynostosis, High palate

Diagnosis

Biomarker and diagnostic research for craniofrontonasal dysplasia-Poland anomaly syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 20 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 craniofrontonasal dysplasia-Poland anomaly syndrome.

156 publications have been identified in PubMed for craniofrontonasal dysplasia-Poland anomaly syndrome. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	76	49%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1521

GARD

Genetic and Rare Diseases Info Center

GARD:428

Questions for Your Care Team

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craniofrontonasal dysplasia-Poland anomaly 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

craniofrontonasal dysplasia-Poland anomaly 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