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focal facial dermal dysplasia type III - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal facial dermal dysplasia type III

MONDO:0009203

Also known as:FFDD type IIIFFDD3Setleis syndrome

Overview

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

GeneticsAutosomal recessive · TWIST2 (chr 2)

OnsetCONGENITAL

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 always present findings: Bitemporal forceps marks and Periorbital fullness; and very common findings: Low anterior hairline, Depressed nasal bridge, Bulbous nose, and Distichiasis and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Depressed nasal bridge

Genetic Landscape

TWIST2 function has not been fully characterized.

Focal facial dermal dysplasia type III is associated with mutations in the TWIST2 gene on chromosome 2.

Diagnosis

Genetic testing for TWIST2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 5 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 focal facial dermal dysplasia type III.

1 publication has been identified in PubMed for focal facial dermal dysplasia type III. Research spans Case Report / Case Series (100%).

Recent Publications

Gnesotto L (2025). [PMID: 40231353](https://pubmed.ncbi.nlm.nih.gov/40231353/). *Dermatology reports*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227260

Orphanet

European rare disease database

Orphanet:1807

GARD

Genetic and Rare Diseases Info Center

GARD:121

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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focal facial dermal dysplasia type III

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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