Living with Pyknodysostosis
A genetic bone condition present from birth with short stature, a large head, short fingers, and brittle bones.
Understanding Pyknodysostosis
People can have a large head and high forehead, underdeveloped facial bones, and short fingers and toes. They may have short stature, dental differences, brittle bones, and late closing of the skull bones. Bones may become more brittle with age. Other problems like sleep apnea and bone infections can occur. It is diagnosed from an exam and X-rays, and confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Denser bones that break easily (osteosclerosis)
- Short stature
- Dental differences
- Small lower jaw and set-back midface
- Delayed closing of skull bones
- Sleep apnea
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 CTSK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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
This condition is caused by changes in the CTSK gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: maroteaux-lamy pyknodysostosis syndrome; maroteaux-lamy syndrome ii; pycnodysostosis; stanesco's dysostosis syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyknodysostosis.
Explore research for Pyknodysostosis
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- Recruiting studies from ClinicalTrials.gov
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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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