Living with Gaucher disease perinatal lethal
The earliest and most severe form of Gaucher disease, with signs around birth such as skin changes, an enlarged liver and spleen, and low blood counts.
Understanding Gaucher disease perinatal lethal
It is an inherited metabolic condition that affects the newborn period and infancy. It can involve skin changes, an enlarged liver and spleen, low blood counts, low muscle tone, and joint stiffness. Decreased fetal movement may be noticed before birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver and spleen
- Dry, scaly skin (ichthyosis)
- Low blood cell counts (pancytopenia)
- Anemia and low platelet count
- Low muscle tone (hypotonia)
- Joints that can't be straightened (contractures)
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GBA1 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
- 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 Foundation for Ichthyosis and Related Skin Types 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
Changes in the GBA1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: fetal gaucher disease; foetal gaucher disease; gaucher disease collodion type; gaucher disease, collodion type; gaucher disease, perinatal lethal; gaucher disease, perinatal-lethal form
Patient organizations
- 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 Gaucher disease perinatal lethal.
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