hand-foot-genital syndrome
Findings
No curated finding names hand-foot-genital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Definition from the Mondo Disease Ontology (MONDO:0007698), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Miscarriage
HPO, annotations 2026-09-02
Features
74 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal scaphoid morphologyHPOHP:0004243
- 1 of 1 reported patient
- Abnormal ureter morphologyHPOHP:0025633
- 1 of 1 reported patient
- Absent distal interphalangeal creasesHPOHP:0001032
- 1 of 1 reported patient
- Absent halluxHPOHP:0012386
- 1 of 1 reported patient
- AnonychiaHPOHP:0001798
- 2 of 2 reported patients
- Aplasia of the distal phalanx of the 5th fingerHPOHP:0009246
- 1 of 1 reported patient
- Bicornuate uterusHPO
Show the remaining 62
- CholelithiasisHPOHP:0001081
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Clinodactyly of the 4th fingerHPOHP:0040025
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Duplicate uterine cervixHPOHP:6000414
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HOXA13HGNC:5102
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: hand-foot-genital syndrome
- Also called
- hand-foot-uterus syndromeHFGS