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femoral-facial syndrome (FFS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

femoral-facial syndrome

MONDO:0007604

Also known as:FFSFHUFSfemoral hypoplasia-unusual facies syndrome

Overview

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.

GeneticsSporadic (not inherited)

ResearchLimited published research (3 articles)

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 common findings: Cleft palate, Short femur, Talipes equinovarus, and Micrognathia; and sometimes findings: Epicanthus, Camptodactyly of finger, Hemivertebrae, and 11 pairs of ribs and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Preaxial hand polydactyly, Toe syndactyly, Camptodactyly of finger

Prognosis

Phenotype severity distribution: 4 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 femoral-facial syndrome.

3 publications have been identified in PubMed for femoral-facial syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Onoda S (2026). [PMID: 41791207](https://pubmed.ncbi.nlm.nih.gov/41791207/). *Journal of plastic, reconstructive & aesthetic surgery : JPRAS*. [Case Report / Case Series]
Mitra M (2025). [PMID: 40555531](https://pubmed.ncbi.nlm.nih.gov/40555531/). *BMJ case reports*. [Case Report / Case Series]
Mpayo LL (2025). [PMID: 40140989](https://pubmed.ncbi.nlm.nih.gov/40140989/). *Journal of medical case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:134780

Orphanet

European rare disease database

Orphanet:1988

GARD

Genetic and Rare Diseases Info Center

GARD:61

Questions for Your Care Team

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femoral-facial syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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