Overview
Growth delay-hydrocephaly-lung hypoplasia syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The syndrome is characterized by three main features: significant delays in growth (both before and after birth), hydrocephalus (a buildup of fluid in the brain that causes the head to enlarge and puts pressure on brain tissue), and lung hypoplasia (underdeveloped lungs that are smaller than normal and may not function properly). This combination of problems typically presents at birth or is detected during pregnancy through ultrasound imaging. Because the lungs are underdeveloped, affected newborns often have severe breathing difficulties that can be life-threatening. The hydrocephalus can lead to neurological problems including developmental delays and intellectual disability. Growth restriction means that babies are born smaller than expected for their gestational age and may continue to grow slowly after birth. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing each symptom individually. This may include surgical placement of a shunt to drain excess fluid from the brain, respiratory support for breathing difficulties, and nutritional support to help with growth. Because this condition is so rare, there is limited information about long-term outcomes, and management is typically guided by a team of specialists working together.
Also known as:
Key symptoms:
Poor growth before and after birthBuildup of fluid in the brain (hydrocephalus)Enlarged head sizeUnderdeveloped lungsSevere breathing difficulties at birthLow birth weightShort statureDevelopmental delaysIntellectual disabilityFeeding difficultiesReduced muscle toneAbnormal facial features
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Growth delay-hydrocephaly-lung hypoplasia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Growth delay-hydrocephaly-lung hypoplasia syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Growth delay-hydrocephaly-lung hypoplasia 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 Growth delay-hydrocephaly-lung hypoplasia syndrome.
Community
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Caregiver 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 severe is my child's lung underdevelopment, and what respiratory support will be needed?,Will my child need a shunt for hydrocephalus, and what are the risks of the surgery?,What developmental milestones should we watch for, and when should we be concerned?,Are there genetic tests that can help us understand the cause and the chance of this happening in future pregnancies?,What therapies and early intervention services do you recommend?,What emergency signs should we watch for at home?,Are there any clinical trials or research studies we could participate in?
Common questions about Growth delay-hydrocephaly-lung hypoplasia syndrome
What is Growth delay-hydrocephaly-lung hypoplasia syndrome?
Growth delay-hydrocephaly-lung hypoplasia syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The syndrome is characterized by three main features: significant delays in growth (both before and after birth), hydrocephalus (a buildup of fluid in the brain that causes the head to enlarge and puts pressure on brain tissue), and lung hypoplasia (underdeveloped lungs that are smaller than normal and may not function properly). This combination of problems typically presents at birth or is detected during pregnancy through ultrasou
How is Growth delay-hydrocephaly-lung hypoplasia syndrome inherited?
Growth delay-hydrocephaly-lung hypoplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Growth delay-hydrocephaly-lung hypoplasia syndrome typically begin?
Typical onset of Growth delay-hydrocephaly-lung hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.