Overview
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome is a very rare condition that affects several parts of the body at once. It is sometimes called Hennekam syndrome or costovertebral dysplasia with Sprengel anomaly and hydrocephalus. The condition involves three main problems: hydrocephalus (a buildup of fluid in and around the brain), costovertebral dysplasia (abnormal development of the ribs and spine), and Sprengel anomaly (one or both shoulder blades sit too high on the back because they did not move down to their normal position before birth). These problems are present from birth or become noticeable very early in life. The fluid buildup in the brain can put pressure on brain tissue, which may affect thinking, learning, and movement. The spine and rib abnormalities can cause an unusual shape to the chest and back, and may sometimes affect breathing. The high shoulder blade can limit how well a child can raise their arm. Treatment focuses on managing each problem separately. Hydrocephalus is often treated with a surgical shunt to drain excess fluid. Spine and rib issues may need monitoring or surgery. Physical therapy can help with shoulder and movement problems. There is no cure, but early treatment can improve quality of life significantly.
Also known as:
Key symptoms:
Fluid buildup in the brain (hydrocephalus)Abnormally shaped or fused ribsAbnormal spine shape or fused vertebraeOne or both shoulder blades positioned too high on the back (Sprengel anomaly)Limited ability to raise the arm on the affected sideEnlarged head size due to fluid pressureDevelopmental delays in thinking or learningShort stature or slow growthUnusual chest shapePossible breathing difficulties due to rib or spine problems
Clinical phenotype terms (29)— 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 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hydrocephalus-costovertebral dysplasia-Sprengel anomaly 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 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly 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.What type of hydrocephalus does my child have, and is a shunt the best treatment option?,How often should we monitor the spine and ribs, and what signs should prompt us to come in sooner?,Is surgery for the Sprengel anomaly recommended for my child, and if so, when is the best time?,Should we have genetic testing done, and what type would be most helpful?,What developmental or learning challenges should we watch for, and what early interventions are available?,Are there other specialists we should be seeing regularly as part of a care team?,What are the signs of shunt failure, and what should we do in an emergency?
Common questions about Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
What is Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome?
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome is a very rare condition that affects several parts of the body at once. It is sometimes called Hennekam syndrome or costovertebral dysplasia with Sprengel anomaly and hydrocephalus. The condition involves three main problems: hydrocephalus (a buildup of fluid in and around the brain), costovertebral dysplasia (abnormal development of the ribs and spine), and Sprengel anomaly (one or both shoulder blades sit too high on the back because they did not move down to their normal position before birth). These problems are present fro
How is Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome inherited?
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome typically begin?
Typical onset of Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome is neonatal. Age of onset can vary across affected individuals.