Living with Potocki-Shaffer syndrome
A genetic condition that affects bones, brain development and other tissues, with bone growths, skull openings and developmental delay.
Understanding Potocki-Shaffer syndrome
Most people have several noncancerous bone growths (osteochondromas) and enlarged openings in the skull bones (enlarged parietal foramina) that stay open throughout life. Many have intellectual disability and delays in speech, movement and social skills, plus distinctive facial features. Less often it affects vision, other bones, the heart, kidneys and urinary tract. Signs start in infancy and vary widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several noncancerous bone growths (exostoses)
- Extra openings in the skull bones (parietal foramina)
- Delays in development and speech
- Distinctive facial features
- Crossed eyes and rapid eye movements
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with International WAGR Syndrome Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene or describe an inheritance pattern.
Also known as: 11p11.2 deletion; chromosome 11p11.2 deletion syndrome; p11pds; p11pds - proximal 11p deletion syndrome; proximal 11p deletion syndrome; pss
Patient organizations
- International WAGR Syndrome AssociationPotocki-Shaffer syndrome · United States
- Simons SearchlightPotocki-Shaffer syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Potocki-Shaffer syndrome.
Explore research for Potocki-Shaffer syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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