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ectodermal dysplasia with natal teeth, Turnpenny type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia with natal teeth, Turnpenny type

MONDO:0011041

Also known as:ectodermal dysplasia with natal teeth Turnpenny typeectodermal dysplasia, hair/Tooth type

Overview

Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Natal tooth, Abnormal nail morphology, Short stature, and Relative macrocephaly and 11 more.

Organ System	Phenotype Count	Example Features
Skin	1	Abnormal nail morphology
Growth and development

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 ectodermal dysplasia with natal teeth, Turnpenny type.

1 publication has been identified in PubMed for ectodermal dysplasia with natal teeth, Turnpenny type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Akalın A (2025). [PMID: 41163957](https://pubmed.ncbi.nlm.nih.gov/41163957/). *Mol Syndromol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601345

Orphanet

European rare disease database

Orphanet:69083

GARD

Genetic and Rare Diseases Info Center

GARD:10526

Questions for Your Care Team

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ectodermal dysplasia with natal teeth, Turnpenny type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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