Overview
Czeizel-Losonci syndrome is a very rare condition that affects the development of the limbs and urinary tract before birth. It is also sometimes referred to as ectrodactyly with urinary tract anomalies, or split hand/foot malformation with urinary tract defects. The syndrome is named after the researchers who first described it. Children born with this condition typically have abnormal hand or foot development — most notably a condition called ectrodactyly, where the middle fingers or toes are missing, giving the hand or foot a claw-like or split appearance. Along with these limb differences, affected individuals often have structural problems with the kidneys or other parts of the urinary system. Because this syndrome is so rare, the full range of symptoms and how they vary from person to person is not completely understood. Some individuals may have mild limb differences with minor kidney issues, while others may face more significant challenges. Treatment focuses on managing the specific problems each person has. Surgery may help improve hand and foot function, and kidney problems are monitored and treated by specialists. There is no cure, but with the right medical team, many aspects of the condition can be managed to improve quality of life.
Also known as:
Key symptoms:
Missing or fused middle fingers or toes (split hand or foot appearance)Claw-like or lobster-claw shape of the hands or feetKidney abnormalities present from birthProblems with the ureters (tubes connecting kidneys to the bladder)Bladder structural defectsAbnormal or absent fingers or toesPossible differences in the shape or size of the feetUrinary tract infections due to structural kidney problems
Clinical phenotype terms (34)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventHYMPAVZI: FDA approved
routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with hemophilia A (congenital factor VIII deficiency) without factor VIII inhibitors, or hemophilia B (congenital factor IX deficiency) without factor IX inhibitors
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableHYMPAVZI
routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with hemophilia A (congenital factor VIII deficiency) without fact…
routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with hemophilia A (congenital factor VIII deficiency) without factor VIII inhibitors, or hemophilia B (congenital factor IX deficiency) without factor IX inhibitors
Clinical Trials
View all trials with filters →No actively recruiting trials found for Czeizel-Losonci syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Czeizel-Losonci 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 Czeizel-Losonci syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
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 specific kidney or urinary tract problems does my child have, and how serious are they?,Is genetic testing recommended for our family, and what gene should be tested?,What surgeries might help improve hand or foot function, and when should they happen?,How often should we monitor kidney function, and what signs should prompt an urgent visit?,What therapies are most important to start early for my child's development?,Are there other family members who should be evaluated or tested?,Are there any clinical trials or research studies we should know about?
Common questions about Czeizel-Losonci syndrome
What is Czeizel-Losonci syndrome?
Czeizel-Losonci syndrome is a very rare condition that affects the development of the limbs and urinary tract before birth. It is also sometimes referred to as ectrodactyly with urinary tract anomalies, or split hand/foot malformation with urinary tract defects. The syndrome is named after the researchers who first described it. Children born with this condition typically have abnormal hand or foot development — most notably a condition called ectrodactyly, where the middle fingers or toes are missing, giving the hand or foot a claw-like or split appearance. Along with these limb differences,
How is Czeizel-Losonci syndrome inherited?
Czeizel-Losonci syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Czeizel-Losonci syndrome typically begin?
Typical onset of Czeizel-Losonci syndrome is neonatal. Age of onset can vary across affected individuals.