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femur-fibula-ulna complex - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

femur-fibula-ulna complex

MONDO:0009221

Also known as:FFU complexPFFDfemur-fibula-ulna dysostosis

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Overview

Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.

Clinical Trials1 registered

ResearchLimited published research (4 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 very common findings: Split hand, Abnormal thigh bone (abnormal femur morphology), Micromelia, and Humeroradial synostosis and others; and common findings: Abnormal fibula morphology, Abnormality of the elbow, Amelia involving the upper limbs, and Upper limb asymmetry. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Split hand, Finger syndactyly, Amelia involving the upper limbs

Prognosis

Phenotype severity distribution: 8 very common features, 4 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

1 clinical trial registered.

4 publications have been identified in PubMed for femur-fibula-ulna complex. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Weiss BM (2025). [PMID: 39462998](https://pubmed.ncbi.nlm.nih.gov/39462998/). *J Anat*. [Basic Science / Preclinical]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Candela Andrade M (2025). [PMID: 39943184](https://pubmed.ncbi.nlm.nih.gov/39943184/). *Animals (Basel)*. [Basic Science / Preclinical]
Botha J (2025). [PMID: 39707522](https://pubmed.ncbi.nlm.nih.gov/39707522/). *J Anat*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228200

Orphanet

European rare disease database

Orphanet:2019

GARD

Genetic and Rare Diseases Info Center

GARD:2286

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
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femur-fibula-ulna complex

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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