Living with Pyle metaphyseal dysplasia
A genetic bone condition in which the ends of the long bones are wide and the bones break easily.
Understanding Pyle metaphyseal dysplasia
The bones look like boat oars or paddles. The inner spongy bone is enlarged, but the dense outer layer is thinner, so bones are fragile and break easily. Knock knees are common. Collar bones, ribs, and finger bones can be widened. Dental problems such as late tooth eruption and misaligned teeth are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide ends of the long bones
- Bones that break easily
- Knock knees
- Wide collar bones
- Misaligned teeth (malocclusion)
- Dental cavities
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.
- 3Consider genetic testing
Changes in SFRP4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
This condition is caused by changes in the SFRP4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: bakwin-krida syndrome; metaphyseal dysostosis; metaphyseal dysplasia, pyle type; pyl; pyle disease; pyle-cohn 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 Pyle metaphyseal dysplasia.
Explore research for Pyle metaphyseal dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- 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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