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fibular aplasia-ectrodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibular aplasia-ectrodactyly syndrome

MONDO:0007225

Also known as:brachydactyly-ectrodactyly with fibular aplasia or hypoplasiafibular aplasia ectrodactyly

Overview

Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.

GeneticsAutosomal dominant

ResearchLimited published research (2 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: Brachydactyly, Aplasia/Hypoplasia of the fibula, Fibular aplasia, and Split foot and 1 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Split foot, Short phalanx of finger

Explore clinical features

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 fibular aplasia-ectrodactyly syndrome.

2 publications have been identified in PubMed for fibular aplasia-ectrodactyly syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Elewee A (2025). [PMID: 40769048](https://pubmed.ncbi.nlm.nih.gov/40769048/). *Int J Surg Case Rep*. [Case Report / Case Series]
Deftereou TE (2024). [PMID: 39176338](https://pubmed.ncbi.nlm.nih.gov/39176338/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113310

Orphanet

European rare disease database

Orphanet:1118

GARD

Genetic and Rare Diseases Info Center

GARD:2331

Questions for Your Care Team

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fibular aplasia-ectrodactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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