Living with Weill-Marchesani 4 syndrome, recessive
A genetic condition with eye lens problems, severe nearsightedness, glaucoma, and short stature, starting in infancy.
Understanding Weill-Marchesani 4 syndrome, recessive
People can have a small, round, or shifted eye lens, severe nearsightedness, and glaucoma. They are also short in height. GARD's summary also mentions skin changes at birth, short fingers, and joint stiffness. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe nearsightedness
- Shifted eye lens (ectopia lentis)
- Glaucoma and high eye pressure
- Trembling eye lens
- Shallow front chamber of the eye
- Short stature
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ADAMTS17 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
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Chromosome Disorder Outreach 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 linked to the ADAMTS17 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 15q26.3 microdeletion syndrome; ichthyosis-short stature-brachydactyly-microspherophakia syndrome; weill-marchesani syndrome 4; weill-marchesani-like syndrome; wms4
Patient organizations
- Chromosome Disorder OutreachWeill-Marchesani 4 syndrome, recessive · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Weill-Marchesani 4 syndrome, recessive.
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