Overview
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: aphalangy means the absence of one or more finger or toe bones (phalanges), hemivertebrae refers to abnormally formed bones in the spine where only half of a vertebra develops, and urogenital-intestinal dysgenesis means that the urinary tract, reproductive organs, and intestines do not develop properly. Babies born with this condition may have missing or shortened fingers and toes, a curved or abnormal spine, kidney or bladder problems, genital abnormalities, and intestinal malformations that can affect how food is digested and absorbed. Some affected individuals may also have anal atresia, meaning the opening of the anus is absent or blocked. Because this syndrome involves so many organ systems, it typically requires care from a team of specialists. Treatment is mainly supportive and surgical, focusing on correcting structural problems and managing complications. There is currently no cure, and management is tailored to each patient's specific combination of birth defects. The condition is usually apparent at birth or even detected on prenatal ultrasound due to the visible skeletal and organ abnormalities.
Also known as:
Key symptoms:
Missing finger or toe bonesAbnormally formed spine bones (hemivertebrae)Curved spine (scoliosis)Kidney malformationsBladder abnormalitiesGenital abnormalitiesIntestinal malformationsAbsent or blocked anal opening (anal atresia)Shortened fingers or toesNail abnormalitiesFeeding difficulties in infancyGrowth problems
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis 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 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis 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
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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 organs are affected in my child's case, and how severe are the malformations?,What surgeries will my child need, and what is the expected timeline?,How will my child's kidney function be monitored over time?,What therapies can help my child develop hand skills and mobility?,Is genetic testing available to help us understand the cause and plan for future pregnancies?,Are there any dietary or nutritional needs we should be aware of?,What warning signs should prompt us to seek emergency care?
Common questions about Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
What is Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome?
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: aphalangy means the absence of one or more finger or toe bones (phalanges), hemivertebrae refers to abnormally formed bones in the spine where only half of a vertebra develops, and urogenital-intestinal dysgenesis means that the urinary tract, reproductive organs, and intestines do not develop properly. Babies born with this condition may have missing or shortened fingers and toes, a curved or abnorma
How is Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome inherited?
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome typically begin?
Typical onset of Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is neonatal. Age of onset can vary across affected individuals.