Living with Pacman dysplasia
A very rare bone condition seen before birth, with speckled bone changes, weak bones, and bowed, shortened limbs.
Understanding Pacman dysplasia
It affects how bones form and break down. Imaging shows speckled spots in the ends of bones, spine, and ankle bones, along with very thin, weak bones. The long bones are bowed and shortened, and the spine bones have clefts. Tests show normal activity of certain enzymes, and bone samples show extra bone breakdown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Speckled spots at the ends of bones (epiphyseal stippling)
- Bowed long bones
- Cleft spine bones (coronal cleft vertebrae)
- Bow-legged look (genu varum)
- Closely spaced eyes (hypotelorism)
- A heart channel that stays open (patent ductus arteriosus)
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 bone and joint 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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
Changes in the genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome; epiphyseal stippling with osteoclastic hyperplasia; epiphyseal stippling with osteoclastic hyperplasia syndrome; epiphyseal stippling-osteoclastic hyperplasia syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pacman dysplasia.
Explore research for Pacman dysplasia
Explore actively recruiting Pacman dysplasia studies with HealthSpark.
Find actively recruiting studies for Pacman dysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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