Overview
Lower limb malformation-hypospadias syndrome is a very rare condition present from birth that affects the development of the lower limbs and the urinary opening in males. The name describes the two main features: abnormal formation of the legs or feet, and hypospadias, which means the opening of the urethra (the tube that carries urine out of the body) is located on the underside of the penis rather than at the tip. The lower limb differences can include missing or fused toes, shortened or abnormally shaped bones in the feet or legs, or other structural changes. This combination of features is sometimes called 'lower limb defects with hypospadias.' Because this syndrome is so rare, the full range of symptoms and how they vary from person to person is not completely understood. Most cases are identified at birth during a physical examination. Treatment focuses on correcting the specific physical differences through surgery and supportive care. A team of specialists is usually needed to manage both the urological and orthopedic aspects of the condition. Early diagnosis and coordinated care can greatly improve quality of life for affected individuals.
Also known as:
Key symptoms:
Urethra opening on the underside of the penis instead of the tip (hypospadias)Abnormal shape or structure of the feet or toesMissing or fused toesShortened or underdeveloped bones in the lower legs or feetDifficulty with normal urination due to the misplaced urethral openingPossible curvature of the penis (chordee)Differences in the appearance or function of one or both lower limbs
Clinical phenotype terms (12)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lower limb malformation-hypospadias syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lower limb malformation-hypospadias syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Lower limb malformation-hypospadias syndrome.
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Caregiver Resources
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Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best timing and approach for hypospadias surgery for my child?,Will my child need more than one surgery, and what are the risks?,Should we do genetic testing, and what might it tell us about the cause?,What are the chances that future children could be affected?,What type of physical therapy or orthopedic treatment is recommended for the lower limb differences?,Are there any kidney or urinary tract problems we should check for?,Are there any patient registries or research studies we could participate in?
Common questions about Lower limb malformation-hypospadias syndrome
What is Lower limb malformation-hypospadias syndrome?
Lower limb malformation-hypospadias syndrome is a very rare condition present from birth that affects the development of the lower limbs and the urinary opening in males. The name describes the two main features: abnormal formation of the legs or feet, and hypospadias, which means the opening of the urethra (the tube that carries urine out of the body) is located on the underside of the penis rather than at the tip. The lower limb differences can include missing or fused toes, shortened or abnormally shaped bones in the feet or legs, or other structural changes. This combination of features is
At what age does Lower limb malformation-hypospadias syndrome typically begin?
Typical onset of Lower limb malformation-hypospadias syndrome is neonatal. Age of onset can vary across affected individuals.