Living with Frontometaphyseal dysplasia
A bone growth condition with joint contractures, a distinctive face, and often hearing loss, present from birth.
Understanding Frontometaphyseal dysplasia
It is set apart by joint contractures that limit movement. People may also have bowed limbs, scoliosis, and finger and hand differences. Facial features can include prominent brow ridges, wide-set eyes, and a very small lower jaw. Some have hearing loss, heart defects, blocked ureters, or narrow airways that can affect breathing. There are three types.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joint contractures that limit movement
- Hearing loss
- Broad thumbs and hand differences
- Facial differences (prominent brow, small jaw)
- Heart differences
- Kidney drainage blockage (hydronephrosis)
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, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 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 cause it. There are three types that differ in genetic cause and inheritance, which can be autosomal dominant or X-linked.
Also known as: fmd - frontometaphyseal dysplasia; fmd1
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 Frontometaphyseal dysplasia.
Explore research for Frontometaphyseal dysplasia
Explore actively recruiting Frontometaphyseal dysplasia studies with HealthSpark.
Find actively recruiting studies for Frontometaphyseal 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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