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

Rare Disease

tibial aplasia-ectrodactyly syndrome

MONDO:0018050

Also known as:SHFLD syndromeSHFM associated with aplasia of long bonesTH-SHFM

Overview

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

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 very common findings: Split hand; and common findings: Limitation of joint mobility, Aplasia/Hypoplasia of the tibia, and Ectrodactyly. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Postaxial hand polydactyly, Split hand, Preaxial hand polydactyly

Prognosis

Phenotype severity distribution: 1 very common feature, 3 common features.

Estimated prevalence: 1-9 in 1,000,000 (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 tibial aplasia-ectrodactyly syndrome.

2 publications have been identified in PubMed for tibial 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 4 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3329

GARD

Genetic and Rare Diseases Info Center

GARD:1369

Questions for Your Care Team

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tibial aplasia-ectrodactyly syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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