Living with Hand-foot-genital syndrome
A rare condition affecting the hands, feet, urinary tract, and reproductive system, with short thumbs and big toes.
Understanding Hand-foot-genital syndrome
People have short thumbs and big toes, small fifth fingers that curve inward, and short feet. Wrist and ankle bones may be fused. Many have differences in the ureters or urethra, and about half of males have hypospadias. Repeated urinary tract infections and trouble controlling urine have been reported. People are usually able to have children, but in some women early uterus development differences can raise the risk of pregnancy loss or early labor. It is noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short thumbs and big toes
- Curved little fingers
- Short feet
- Frequent urinary tract infections
- Hypospadias
- Differences in the uterus
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Consider genetic testing
Changes in HOXA13 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HOXA13 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: hand-foot-uterus syndrome; hfg; hfg syndrome; hfgs; hfu syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hand-foot-genital syndrome.
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