Overview
Hydrocephaly-low insertion umbilicus syndrome is an extremely rare genetic condition that is present at birth. It is also sometimes referred to as hydrocephalus with low-set umbilicus. This syndrome combines two main features: hydrocephalus (a buildup of fluid inside the skull that puts pressure on the brain) and a low-set or abnormally positioned belly button (umbilicus). Affected babies may also have other birth defects involving the brain, abdominal wall, or other body systems. Hydrocephalus occurs when cerebrospinal fluid — the fluid that normally cushions and protects the brain — cannot drain properly. This causes the head to enlarge and can lead to increased pressure on the brain, which may affect development and neurological function. The low insertion of the umbilicus is an unusual physical finding that, when seen together with hydrocephalus, helps doctors recognize this specific syndrome. Because this condition is so rare, there is very limited information about its full range of symptoms, long-term outcomes, and optimal treatment. Management typically focuses on treating the hydrocephalus, often through surgical placement of a shunt to drain excess fluid, and addressing any other associated birth defects. Supportive care, developmental therapies, and regular monitoring by a team of specialists are important parts of ongoing management.
Also known as:
Key symptoms:
Enlarged head due to fluid buildup in the brain (hydrocephalus)Belly button positioned lower than normal on the abdomenIncreased pressure inside the skullDevelopmental delaysPossible intellectual disabilityIrritability or poor feeding in infancyBulging soft spot (fontanelle) on the headPossible vision problemsPossible abdominal wall abnormalitiesPossible seizures
Clinical phenotype terms (10)— 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 Hydrocephaly-low insertion umbilicus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hydrocephaly-low insertion umbilicus 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 Hydrocephaly-low insertion umbilicus syndrome.
Community
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Caregiver Resources
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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 hydrocephalus, and what treatment approach do you recommend?,What are the signs of a shunt malfunction or infection that I should watch for?,Are there any genetic tests that could help us understand the cause of this condition?,What developmental milestones should I be tracking, and when should I be concerned?,What therapies or early intervention services do you recommend for my child?,What is the long-term outlook for my child's development and quality of life?,Is there a risk that future children could have the same condition, and should we see a genetic counselor?
Common questions about Hydrocephaly-low insertion umbilicus syndrome
What is Hydrocephaly-low insertion umbilicus syndrome?
Hydrocephaly-low insertion umbilicus syndrome is an extremely rare genetic condition that is present at birth. It is also sometimes referred to as hydrocephalus with low-set umbilicus. This syndrome combines two main features: hydrocephalus (a buildup of fluid inside the skull that puts pressure on the brain) and a low-set or abnormally positioned belly button (umbilicus). Affected babies may also have other birth defects involving the brain, abdominal wall, or other body systems. Hydrocephalus occurs when cerebrospinal fluid — the fluid that normally cushions and protects the brain — cannot
How is Hydrocephaly-low insertion umbilicus syndrome inherited?
Hydrocephaly-low insertion umbilicus syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hydrocephaly-low insertion umbilicus syndrome typically begin?
Typical onset of Hydrocephaly-low insertion umbilicus syndrome is neonatal. Age of onset can vary across affected individuals.