Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

syndactyly type 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndactyly type 8

MONDO:0010669

Also known as:FGF16 non-syndromic syndactylyfusion of metacarpals 4 and 5metacarpal 4-5 fusion, X-linked recessive

Overview

Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

GeneticsX-linked · FGF16 (chr X)

ResearchLimited published research (8 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 always present findings: Short 5th metacarpal and 4-5 metacarpal synostosis; and common findings: 2-3 toe cutaneous syndactyly and Clinodactyly of the 5th finger.

Organ System	Phenotype Count	Example Features
Arms and legs	2	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGF16 encodes fibroblast growth factor 16 (207 aa). Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development Highest expression in Adipose Subcutaneous (0.6 TPM) and Breast Mammary Tissue (0.4 TPM).

Syndactyly type 8 is associated with mutations in the FGF16 gene on chromosome X.

FGF16 is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 0.0.

Diagnosis

Genetic testing for FGF16 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

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 syndactyly type 8.

8 publications have been identified in PubMed for syndactyly type 8. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Recent Publications

Pattani N (2026). [PMID: 41956799](https://pubmed.ncbi.nlm.nih.gov/41956799/). *J Med Genet*. [Case Report / Case Series]
Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Talsania AJ (2025). [PMID: 40358017](https://pubmed.ncbi.nlm.nih.gov/40358017/). *Tech Hand Up Extrem Surg*. [Clinical Trial Publication]
Tolmacheva EN (2025). [PMID: 39985054](https://pubmed.ncbi.nlm.nih.gov/39985054/). *Mol Cytogenet*. [Epidemiology / Natural History]
He X (2025). [PMID: 39564920](https://pubmed.ncbi.nlm.nih.gov/39564920/). *Orthop Surg*. [Case Report / Case Series]
Rigueur D (2024). [PMID: 39632143](https://pubmed.ncbi.nlm.nih.gov/39632143/). *Differentiation*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309630

Orphanet

European rare disease database

Orphanet:2498

GARD

Genetic and Rare Diseases Info Center

GARD:3559

Questions for Your Care Team

→Should female family members consider carrier screening for FGF16?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

syndactyly type 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team