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turnpenny-fry syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

turnpenny-fry syndrome

MONDO:0032707

Also known as:Neurocardioskeletal SyndromeTPFS

Overview

GeneticsAutosomal dominant · PCGF2 (chr 17)

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 always present findings: Specific learning disability; and very common findings: Satyr ear and Frontal bossing. 81 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	8	Relative macrocephaly, Facial hypotonia, Microcephaly

Genetic Landscape

PCGF2 function has not been fully characterized.

Turnpenny-fry syndrome is strongly associated with mutations in the PCGF2 gene on chromosome 17.

Diagnosis

Genetic testing for PCGF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for turnpenny-fry syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 24 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 turnpenny-fry syndrome.

143 publications have been identified in PubMed for turnpenny-fry syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (14%), and Case Report / Case Series (7%).

Research Type	Count	% of Total
Research summaries	92	64%

Data assembled from 7 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:618371

Orphanet

European rare disease database

Orphanet:688642

Questions for Your Care Team

→Should I pursue genetic testing for PCGF2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

turnpenny-fry syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

turnpenny-fry syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications