Overview
Potocki-Shaffer syndrome (also called chromosome 11p11.2 deletion syndrome or PSS) is a rare genetic condition caused by a small missing piece of chromosome 11. This deletion removes several important genes at once, which is why the syndrome affects multiple parts of the body at the same time. The condition was first described in the 1990s and is named after the researchers who identified it. The most common features include intellectual disability, delayed speech and language development, and problems with bone formation — particularly extra bony growths called exostoses that can appear on the skull and other bones. Many children with Potocki-Shaffer syndrome also have a wide, large fontanelle (soft spot on the head) at birth, and some have distinct facial features. Vision problems and behavioral challenges, including features similar to autism spectrum disorder, are also frequently reported. There is currently no cure for Potocki-Shaffer syndrome. Treatment focuses on managing individual symptoms through therapies such as speech therapy, occupational therapy, physical therapy, and special education support. Surgical removal of painful bone growths may be needed in some cases. With early intervention and ongoing support, many individuals can make meaningful developmental progress and live fulfilling lives.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentMultiple bony growths (exostoses) on the skull and other bonesLarge or slow-closing soft spot on the head (enlarged fontanelle)Distinct facial features such as widely spaced eyesBehavioral challenges or autism-like featuresVision problemsShort statureDelayed motor development (sitting, walking)Hearing difficulties in some individuals
Clinical phenotype terms (23)— 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)
Treatments
No FDA-approved treatments are currently listed for Potocki-Shaffer syndrome.
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Specialists
View all specialists →No specialists are currently listed for Potocki-Shaffer 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 Potocki-Shaffer 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.Which genes are missing in my child's deletion, and how does that affect what symptoms to expect?,What therapies should we start right away, and how often should they happen?,How often should we check for new bone growths, and when would surgery be recommended?,Are there any other medical complications we should screen for regularly, such as heart or kidney problems?,Should other family members be tested for this chromosome deletion?,Are there any clinical trials or research studies we could participate in?,What educational and community support resources are available for our family?
Common questions about Potocki-Shaffer syndrome
What is Potocki-Shaffer syndrome?
Potocki-Shaffer syndrome (also called chromosome 11p11.2 deletion syndrome or PSS) is a rare genetic condition caused by a small missing piece of chromosome 11. This deletion removes several important genes at once, which is why the syndrome affects multiple parts of the body at the same time. The condition was first described in the 1990s and is named after the researchers who identified it. The most common features include intellectual disability, delayed speech and language development, and problems with bone formation — particularly extra bony growths called exostoses that can appear on t
How is Potocki-Shaffer syndrome inherited?
Potocki-Shaffer syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Potocki-Shaffer syndrome typically begin?
Typical onset of Potocki-Shaffer syndrome is neonatal. Age of onset can vary across affected individuals.