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focal facial dermal dysplasia (FFDD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal facial dermal dysplasia

MONDO:0018363

Also known as:FFDD

Overview

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.

OnsetCONGENITAL

ResearchLimited published research (2 articles)

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 focal facial dermal dysplasia.

2 publications have been identified in PubMed for focal facial dermal dysplasia. 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]
Beyens A (2025). [PMID: 39828664](https://pubmed.ncbi.nlm.nih.gov/39828664/). *Clinical genetics*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:398166

GARD

Genetic and Rare Diseases Info Center

GARD:8416

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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focal facial dermal dysplasia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team