Overview
Craniosynostosis-synostoses-hypertensive nephropathy syndrome is an extremely rare genetic condition that has been described in medical literature but is now considered an obsolete or reclassified diagnosis in some disease databases. This condition was characterized by a combination of three main problems: craniosynostosis (early fusion of the skull bones in infants, which can affect head shape and brain growth), synostoses (abnormal fusion of other bones in the body, particularly joints), and hypertensive nephropathy (kidney disease that leads to high blood pressure). Affected individuals may have an unusually shaped head due to premature skull bone fusion, stiff or immovable joints from bone fusions elsewhere in the body, and progressive kidney problems that cause dangerously high blood pressure. Because this condition is so rare and has been reclassified, very limited information is available about its full clinical spectrum. Treatment has generally been supportive, focusing on surgical correction of skull abnormalities when needed, management of joint problems, and control of blood pressure and kidney disease. Patients with this diagnosis should work closely with a team of specialists to address each aspect of the condition. The obsolete status of this entry suggests that the condition may now be classified under a different or updated disease name, and patients should discuss current classification with their geneticist.
Key symptoms:
Abnormal head shape from early skull bone fusionStiff or fused jointsHigh blood pressureKidney problemsLimited range of motion in fingers or toesShort statureFused bones in the hands or feetHeadaches related to high blood pressureSwelling due to kidney dysfunctionFacial asymmetry or unusual facial features
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 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy 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 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Has this diagnosis been reclassified, and is there a more current name for this condition?,What genetic testing should be done to confirm the diagnosis?,How often should my child's kidney function and blood pressure be checked?,When is surgery recommended for the skull bone fusion, and what are the risks?,What can be done to help with joint stiffness and mobility?,Are there any clinical trials or research studies we should know about?,What is the long-term outlook for kidney function, and when might dialysis or transplant be needed?
Common questions about OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome
What is OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome?
Craniosynostosis-synostoses-hypertensive nephropathy syndrome is an extremely rare genetic condition that has been described in medical literature but is now considered an obsolete or reclassified diagnosis in some disease databases. This condition was characterized by a combination of three main problems: craniosynostosis (early fusion of the skull bones in infants, which can affect head shape and brain growth), synostoses (abnormal fusion of other bones in the body, particularly joints), and hypertensive nephropathy (kidney disease that leads to high blood pressure). Affected individuals may
How is OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome inherited?
OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome typically begin?
Typical onset of OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome is neonatal. Age of onset can vary across affected individuals.