Living with Lower limb deficiency-hypospadias syndrome
A rare birth condition with severe lower leg and foot differences, normal arms, and hypospadias.
Understanding Lower limb deficiency-hypospadias syndrome
One or both legs are affected, with an underdeveloped shinbone, split or rocker-bottom feet, and fewer or joined toes. Arms are normal. Some people also have a short neck, large low-set ears, a heart wall opening, or kidney drainage differences. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped shinbone (tibia)
- Legs that differ in length or width
- Hypospadias
- Large, back-rotated ears
- Differences in the ureter
- Heart differences
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 genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: fried goldberg mundel syndrome; fried-goldberg-mundel syndrome; lower limb malformation hypospadias syndrome; lower limb malformation-hypospadias syndrome; severe lower limb malformation associated with other deformities
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 Lower limb deficiency-hypospadias syndrome.
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