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symbrachydactyly of hands and feet - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

symbrachydactyly of hands and feet

MONDO:0015516

Also known as:De Smet-Fabry-Fryns syndromefrints de Smet Fabry Fryns syndromesymbrachydactyly of the hand and foot

Overview

A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.

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 very common findings: Abnormality of the humeroulnar joint; and common findings: Sideways curvature of the spine (scoliosis), Abnormal humerus morphology, Vertebral segmentation defect, and Aplasia/Hypoplasia of the radius and others.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Abnormality of the humeroulnar joint, Sideways curvature of the spine (scoliosis), Vertebral segmentation defect

Prognosis

Phenotype severity distribution: 1 very common feature, 6 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 symbrachydactyly of hands and feet.

3 publications have been identified in PubMed for symbrachydactyly of hands and feet. Research spans Other (33%), Case Report / Case Series (33%), and Clinical Trial Publication (33%).

Recent Publications

Wright CL (2025). [PMID: 40438991](https://pubmed.ncbi.nlm.nih.gov/40438991/). *Tech Hand Up Extrem Surg*. [Clinical Trial Publication]
Deftereou TE (2024). [PMID: 39176338](https://pubmed.ncbi.nlm.nih.gov/39176338/). *Cureus*. [Case Report / Case Series]
Pedeutour B (2024). [PMID: 38718981](https://pubmed.ncbi.nlm.nih.gov/38718981/). *Hand Surg Rehabil*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1570

GARD

Genetic and Rare Diseases Info Center

GARD:1680

Questions for Your Care Team

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symbrachydactyly of hands and feet

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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