Living with Perlman syndrome
A rare inherited overgrowth condition in infancy with large size, large organs, developmental delay, and a higher chance of a childhood kidney tumor.
Understanding Perlman syndrome
Babies are bigger than most and have large heads, kidneys, and livers. They may have low muscle tone, distinctive facial features, and developmental delay. Over time, there is an increased chance of Wilms tumor, a rare kidney cancer that mainly affects children. Diagnosis is based on symptoms, an exam, and may be confirmed with genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large size and large head
- Enlarged liver
- Low muscle tone (hypotonia)
- Delays in development
- Intellectual disability
- Wilms tumor (kidney cancer in children)
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 cancer specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in DIS3L2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- 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 National Kidney Foundation 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 DIS3L2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: nephroblastomatosis - fetal ascites - macrosomia - wilms tumor; nephroblastomatosis - foetal ascites - macrosomia - wilms tumour; nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome; nephroblastomatosis-fetal ascites-macrosomia-wilms tumour syndrome; nephroblastomatosis, fetal ascites, macrosomia and wilms tumor; nephroblastomatosis, foetal ascites, macrosomia and wilms tumour
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Perlman syndrome.
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