Living with Weill-Marchesani syndrome
A connective tissue condition with short stature, short fingers and toes, stiff joints, and eye problems such as shifted lenses and glaucoma.
Understanding Weill-Marchesani syndrome
Main signs are short stature, eye differences, short fingers and toes, and stiff joints. A small, round lens (microspherophakia) causes nearsightedness that worsens over time, and the lens may sit in the wrong place. Many people develop glaucoma. Heart defects or an abnormal heart rhythm occur sometimes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short fingers and toes (brachydactyly)
- Stiff joints
- Small, round eye lens (microspherophakia)
- Severe nearsightedness
- Glaucoma
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America 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
GARD lists both autosomal dominant and autosomal recessive inheritance. It doesn't name a gene here.
Also known as: brachydactyly-spherophakia syndrome; brachymorphy with spherophakia syndrome; congenital mesodermal dystrophy; marchesani-weill syndrome; marchesani's syndrome; mesodermal dysmorphodystrophy congenital
Patient organizations
- Little People of AmericaWeill-Marchesani syndrome · United States
- Human Growth FoundationWeill-Marchesani syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Weill-Marchesani syndrome.
Explore research for Weill-Marchesani syndrome
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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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