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hand-foot-genital syndrome (HFGS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hand-foot-genital syndrome

MONDO:0007698

Also known as:HFGShand-foot-uterus syndromeHFG

Overview

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

GeneticsAutosomal dominant · HOXA13 (chr 7)

ResearchLimited published research (1 article)

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 finger. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Ulnar deviation of the 2nd finger, Shortening of all middle phalanges of the fingers, Short 2nd toe

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.

HOXA13 encodes homeobox A13 (388 aa). Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis Highest expression in Cervix Ectocervix (71.9 TPM) and Cervix Endocervix (59.2 TPM).

Hand-foot-genital syndrome is caused by mutations in the HOXA13 gene on chromosome 7.

HOXA13 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 17.4.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Hand-foot-genital syndrome should be suspected in individuals with the following clinical and radiographic features.

Limb Malformations

Bilateral thumb and great-toe hypoplasia are the hallmark malformations, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal. Shortening is often mild to moderate but on occasion may be more severe and may cause shortening of the distal phalanx of other digits (see , (family 5), and ). Additional findings that may be present:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hand-foot-genital syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hand-foot-genital syndrome (HFGS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hand-Foot-Genital Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Follow up with a urologist in the presence of vesicoureteral reflux and/or documented urinary tract infection is warranted.

Source: GeneReviews — "Hand-Foot-Genital Syndrome"

Phenotype severity distribution: 1 always present feature.

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 hand-foot-genital syndrome.

1 publication has been identified in PubMed for hand-foot-genital syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

Wang S (2025). [PMID: 40072077](https://pubmed.ncbi.nlm.nih.gov/40072077/). *Cells*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 7:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:140000

Orphanet

European rare disease database

Orphanet:2438

GARD

Genetic and Rare Diseases Info Center

GARD:2594

Questions for Your Care Team

→Should I pursue genetic testing for HOXA13, and what would the results mean for my family?
→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

Kisho

hand-foot-genital syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Limb Malformations

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Rothmund-Thomson syndrome

Holt-Oram syndrome

FGFR2

Townes-Brocks syndrome

Musculoskeletal

Renal

Gynecologic

Other

Bladder outlet abnormalities

Gynecologic anomalies

Therapies Under Investigation

Clinical Trials

hand-foot-genital syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Limb Malformations

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Rothmund-Thomson syndrome

Holt-Oram syndrome

FGFR2

Townes-Brocks syndrome

Musculoskeletal

Renal

Gynecologic

Other

Bladder outlet abnormalities

Gynecologic anomalies

Therapies Under Investigation

Clinical Trials