Living with Mixed sclerosing bone dystrophy with extra-skeletal manifestations
A rare genetic bone condition with denser bones, a larger head, cleft palate, hearing loss, and developmental delay.
Understanding Mixed sclerosing bone dystrophy with extra-skeletal manifestations
It involves bone differences such as thickening of the skull and of the ribs and long bones. People can also have a large head, cleft palate, hearing loss, developmental delay, and certain facial features, such as eyes set far apart and a prominent forehead. Low muscle tone, soft airway cartilage, and nearsightedness with astigmatism are also linked. Signs are seen in the newborn period.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Denser, thicker bones, including the skull
- Larger-than-average head size (macrocephaly)
- Cleft palate
- Hearing loss
- Delays in reaching developmental milestones
- Low muscle tone (hypotonia)
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 genes (also called variants) cause this condition. GARD does not list the specific gene.
Also known as: mixed sclerosing bone dystrophy with extra-skeletal manifestation
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 Mixed sclerosing bone dystrophy with extra-skeletal manifestations.
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