Overview
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome (also known as DICER1-related overgrowth syndrome or sometimes referred to in the context of DICER1 syndrome spectrum) is an extremely rare genetic condition that affects multiple parts of the body. Children with this syndrome typically show signs of overgrowth, meaning they grow larger and faster than expected for their age. They also experience global developmental delay, which means they are slower to reach milestones like sitting, walking, and talking compared to other children their age. A hallmark feature is the development of cysts (fluid-filled sacs) in the lungs, which can affect breathing. There is also an increased risk of developing Wilms tumor, a type of kidney cancer that primarily occurs in children. This syndrome is caused by changes in the DICER1 gene, which plays an important role in controlling cell growth and development. Because the gene affects many different tissues, the condition can involve several organ systems. Treatment is tailored to each child's specific symptoms and may include surgery for tumors, respiratory support for lung cysts, developmental therapies such as speech and physical therapy, and regular cancer screening. Early diagnosis and close monitoring by a team of specialists are essential to managing this condition and catching any complications as early as possible. Because this syndrome is so rare, much of the care is guided by expert opinion and experience with related overgrowth and tumor predisposition syndromes.
Also known as:
Key symptoms:
Delayed milestones such as sitting, walking, and talkingLarger than expected body size (overgrowth)Cysts in the lungsIncreased risk of Wilms tumor (a kidney cancer in children)Intellectual disability or learning difficultiesEnlarged head size (macrocephaly)Breathing difficulties due to lung cystsAbnormal facial featuresKidney abnormalitiesLow muscle tone (feeling floppy)Possible thyroid nodules or other tumorsSpeech and language delays
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome.
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Specialists
View all specialists →No specialists are currently listed for Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome.
Community
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Start the conversation →Latest news about Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How often should my child have screening for Wilms tumor and other cancers?,What developmental therapies do you recommend, and how often should they occur?,How should we monitor the lung cysts, and when would surgery be needed?,Are there other tumors or health problems we should watch for as my child grows?,Should other family members be tested for the DICER1 gene change?,What are the signs of an emergency that should send us to the hospital right away?,Are there any clinical trials or research studies my child might be eligible for?
Common questions about Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
What is Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome?
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome (also known as DICER1-related overgrowth syndrome or sometimes referred to in the context of DICER1 syndrome spectrum) is an extremely rare genetic condition that affects multiple parts of the body. Children with this syndrome typically show signs of overgrowth, meaning they grow larger and faster than expected for their age. They also experience global developmental delay, which means they are slower to reach milestones like sitting, walking, and talking compared to other children their age. A hallmark feature is the develo
How is Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome inherited?
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome typically begin?
Typical onset of Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is neonatal. Age of onset can vary across affected individuals.