Overview
Postaxial polydactyly-dental and vertebral anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: postaxial polydactyly means having extra fingers or toes on the outer (pinky) side of the hands or feet, along with problems in the teeth (dental anomalies) and bones of the spine (vertebral anomalies). Children born with this syndrome may have extra digits on one or more limbs, missing or unusually shaped teeth, and abnormalities in the shape or number of their vertebrae (the small bones that make up the spine). Some individuals may also have other skeletal differences or mild facial features that are distinctive. Because this condition is so rare, only a handful of cases have been described in the medical literature. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. Surgery may be needed to remove extra fingers or toes, dental care can address tooth problems, and orthopedic monitoring helps manage any spinal issues. A team of specialists typically works together to provide the best care for affected individuals.
Key symptoms:
Extra fingers or toes on the outer side of the hand or footMissing teeth or unusually shaped teethAbnormally shaped or extra vertebrae in the spineSkeletal abnormalitiesShort stature or growth differencesNail abnormalitiesMild facial differencesCone-shaped ends of finger bones
Clinical phenotype terms (29)— 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 Postaxial polydactyly-dental and vertebral anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Postaxial polydactyly-dental and vertebral anomalies 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 Postaxial polydactyly-dental and vertebral anomalies 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 skeletal and dental problems does my child have, and how severe are they?,When is the best time to surgically remove the extra fingers or toes?,How often should my child's spine be monitored with X-rays or other imaging?,What dental treatments will my child need as they grow?,Is genetic testing available to identify the exact cause of this condition?,What is the chance that future children could also be affected?,Are there any clinical trials or research studies we could participate in?
Common questions about Postaxial polydactyly-dental and vertebral anomalies syndrome
What is Postaxial polydactyly-dental and vertebral anomalies syndrome?
Postaxial polydactyly-dental and vertebral anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: postaxial polydactyly means having extra fingers or toes on the outer (pinky) side of the hands or feet, along with problems in the teeth (dental anomalies) and bones of the spine (vertebral anomalies). Children born with this syndrome may have extra digits on one or more limbs, missing or unusually shaped teeth, and abnormalities in the shape or number of their vertebrae (the small bones that make up
How is Postaxial polydactyly-dental and vertebral anomalies syndrome inherited?
Postaxial polydactyly-dental and vertebral anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Postaxial polydactyly-dental and vertebral anomalies syndrome typically begin?
Typical onset of Postaxial polydactyly-dental and vertebral anomalies syndrome is neonatal. Age of onset can vary across affected individuals.