Overview
Hydrocephaly-tall stature-joint laxity syndrome is a very rare condition that affects multiple parts of the body. It is sometimes referred to by its three main features: fluid buildup in the brain (hydrocephalus), unusually tall height, and overly flexible joints. Hydrocephalus happens when cerebrospinal fluid — the liquid that cushions the brain and spinal cord — builds up inside the brain's cavities, putting pressure on brain tissue. This can affect brain development and function. The tall stature means affected individuals tend to grow significantly taller than expected for their age and family background. Joint laxity means the joints are looser and more flexible than normal, which can cause instability, pain, or an increased risk of dislocations. This syndrome is extremely rare, and only a small number of cases have been reported in the medical literature. Because so few cases are known, doctors are still learning about the full range of symptoms and how the condition progresses over time. The cause at the genetic level is not yet fully understood. Treatment focuses on managing individual symptoms — for example, surgery or a shunt device may be used to relieve pressure from hydrocephalus, while physical therapy can help with joint problems. There is currently no cure for this syndrome.
Also known as:
Key symptoms:
Fluid buildup in the brain (hydrocephalus)Unusually tall height for ageOverly flexible or loose jointsLarge head size (macrocephaly)Developmental delaysIntellectual disability in some casesIncreased risk of joint dislocationsPossible vision problems due to brain pressureCoordination difficulties
Clinical phenotype terms (15)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hydrocephaly-tall stature-joint laxity syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hydrocephaly-tall stature-joint laxity 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-tall stature-joint laxity syndrome.
Community
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Caregiver Resources
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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.What type of treatment do you recommend for my child's hydrocephalus, and what are the risks and benefits?,How often should we have brain imaging done to monitor the hydrocephalus?,What signs should prompt me to go to the emergency room immediately?,Should we pursue genetic testing, and could this condition be inherited by other family members?,What therapies — such as physical or occupational therapy — would help with joint laxity?,Are there any specialists or centers with experience in this specific syndrome that you would recommend?,What support services are available for school and development?
Common questions about Hydrocephaly-tall stature-joint laxity syndrome
What is Hydrocephaly-tall stature-joint laxity syndrome?
Hydrocephaly-tall stature-joint laxity syndrome is a very rare condition that affects multiple parts of the body. It is sometimes referred to by its three main features: fluid buildup in the brain (hydrocephalus), unusually tall height, and overly flexible joints. Hydrocephalus happens when cerebrospinal fluid — the liquid that cushions the brain and spinal cord — builds up inside the brain's cavities, putting pressure on brain tissue. This can affect brain development and function. The tall stature means affected individuals tend to grow significantly taller than expected for their age and fa
At what age does Hydrocephaly-tall stature-joint laxity syndrome typically begin?
Typical onset of Hydrocephaly-tall stature-joint laxity syndrome is neonatal. Age of onset can vary across affected individuals.