Living with Microspherophakia-metaphyseal dysplasia syndrome
A very rare syndrome with a bone growth difference leading to short limbs, plus eye differences.
Understanding Microspherophakia-metaphyseal dysplasia syndrome
GARD describes it as a combination of bone dysplasia (a difference in how bones grow) with micromelic dwarfism (short limbs) and eye defects. Signs are seen in the newborn period or infancy. It is autosomal dominant.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 eye disease 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
- Eye disease specialists (ophthalmologists); 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 syndrome. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: microspherophakia-metaphyseal dysplasia; verloes-van maldergem-de marneffe 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 Microspherophakia-metaphyseal dysplasia syndrome.
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