Overview
Ptosis-syndactyly-learning difficulties syndrome is an extremely rare genetic condition that combines several features affecting different parts of the body. The name describes its three main characteristics: ptosis (drooping of the upper eyelids), syndactyly (webbing or fusion of fingers or toes), and learning difficulties (problems with intellectual development and academic skills). Children born with this syndrome may have droopy eyelids that can partially block their vision, fused or webbed digits on their hands or feet, and challenges with learning and cognitive development that become more apparent as they grow. Because this condition is so rare, very few cases have been described in the medical literature. The exact genetic cause is not yet fully understood, and there is no specific cure. Treatment focuses on managing each symptom individually. Surgery may be considered to correct the drooping eyelids and to separate fused fingers or toes, which can improve both function and appearance. Educational support and early intervention programs can help children with learning difficulties reach their full potential. A team of specialists is usually needed to address the various aspects of this syndrome, including eye doctors, hand surgeons, and developmental specialists. Families affected by this condition benefit from coordinated care and ongoing monitoring as the child grows.
Key symptoms:
Drooping of the upper eyelids (ptosis)Webbing or fusion of fingers or toesLearning difficultiesIntellectual disabilityDelayed developmental milestonesPossible vision problems due to droopy eyelidsReduced hand or foot function due to fused digitsPossible facial differencesSpeech and language delays
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 Ptosis-syndactyly-learning difficulties syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ptosis-syndactyly-learning difficulties 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 Ptosis-syndactyly-learning difficulties 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.How severe is my child's ptosis, and does it need surgical correction to protect their vision?,What type of surgery is recommended for the syndactyly, and when is the best time to do it?,What early intervention services should we start right away?,Should we pursue genetic testing, and what might it tell us?,What is the expected learning trajectory, and what school supports should we request?,Are there any other health issues we should screen for as part of this syndrome?,How often should my child have follow-up appointments with each specialist?
Common questions about Ptosis-syndactyly-learning difficulties syndrome
What is Ptosis-syndactyly-learning difficulties syndrome?
Ptosis-syndactyly-learning difficulties syndrome is an extremely rare genetic condition that combines several features affecting different parts of the body. The name describes its three main characteristics: ptosis (drooping of the upper eyelids), syndactyly (webbing or fusion of fingers or toes), and learning difficulties (problems with intellectual development and academic skills). Children born with this syndrome may have droopy eyelids that can partially block their vision, fused or webbed digits on their hands or feet, and challenges with learning and cognitive development that become mo
At what age does Ptosis-syndactyly-learning difficulties syndrome typically begin?
Typical onset of Ptosis-syndactyly-learning difficulties syndrome is neonatal. Age of onset can vary across affected individuals.