Overview
Craniosynostosis-cataract syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic term, meaning it may have been reclassified or merged with another recognized condition. The syndrome was originally described as a combination of craniosynostosis (premature fusion of the skull bones in infants) and cataracts (clouding of the lens of the eye). Craniosynostosis causes the skull to grow in an abnormal shape because the bones fuse too early, before the brain has finished growing. This can lead to increased pressure inside the skull, changes in the shape of the head and face, and potential problems with brain development. Cataracts cause blurry or cloudy vision and can affect one or both eyes. Because this condition is labeled as obsolete in Orphanet, patients who were previously diagnosed with this syndrome may now fall under a different, updated diagnostic category. Very few cases have been reported in the medical literature, and the exact genetic cause and inheritance pattern remain poorly understood. Treatment has generally focused on managing the individual symptoms, such as surgery to correct skull shape and cataract removal to restore vision. Families affected by this condition should work closely with a genetics team to determine whether a more current diagnosis applies.
Key symptoms:
Abnormal skull shape due to early fusion of skull bonesCloudy or blurry vision from cataractsRaised pressure inside the skullBulging or tense soft spot on the headFacial asymmetry or unusual facial featuresVision problems in infancy or early childhoodPossible developmental delaysHeadaches due to increased skull pressurePossible hearing difficulties
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 OBSOLETE: Craniosynostosis-cataract syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniosynostosis-cataract 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-cataract syndrome.
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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.Is this diagnosis still considered accurate, or should we pursue updated genetic testing to reclassify the condition?,When is the best time for skull surgery, and what are the risks?,How will the cataracts be managed, and when should surgery be done?,Are there signs of increased pressure in the skull that I should watch for at home?,Will my child need developmental support or early intervention services?,Is genetic testing recommended for other family members?,Are there any clinical trials or research studies we should know about?
Common questions about OBSOLETE: Craniosynostosis-cataract syndrome
What is OBSOLETE: Craniosynostosis-cataract syndrome?
Craniosynostosis-cataract syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic term, meaning it may have been reclassified or merged with another recognized condition. The syndrome was originally described as a combination of craniosynostosis (premature fusion of the skull bones in infants) and cataracts (clouding of the lens of the eye). Craniosynostosis causes the skull to grow in an abnormal shape because the bones fuse too early, before the brain has finished growing. This can lead to increased pressure inside th
How is OBSOLETE: Craniosynostosis-cataract syndrome inherited?
OBSOLETE: Craniosynostosis-cataract syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Craniosynostosis-cataract syndrome typically begin?
Typical onset of OBSOLETE: Craniosynostosis-cataract syndrome is neonatal. Age of onset can vary across affected individuals.