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proximal femoral focal deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal femoral focal deficiency

MONDO:0859006

Overview

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: Aplasia/hypoplasia of the femur, Aplasia/Hypoplasia involving the femoral head and neck, Short fetal femur length, and Lower limb asymmetry; and common findings: Limited hip movement and Limitation of knee mobility.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Aplasia/hypoplasia of the femur, Aplasia/Hypoplasia involving the femoral head and neck, Short fetal femur length
Pregnancy and birth

Prognosis

Phenotype severity distribution: 4 very common features, 2 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.

No clinical trials have been registered for proximal femoral focal deficiency.

11 publications have been identified in PubMed for proximal femoral focal deficiency. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (18%), and Clinical Trial Publication (9%).

Research Type	Count	% of Total
Patient case studies	7	64%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:633228

Questions for Your Care Team

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Kisho

proximal femoral focal deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

proximal femoral focal deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications