Overview
Craniosynostosis-radial aplasia, Imaizumi type, is an extremely rare condition that was described in medical literature but has since been classified as obsolete in disease databases, meaning it may have been reclassified or merged with another recognized condition. The original description involved two main features: craniosynostosis, which is the premature fusion of one or more of the skull bones in a baby before the brain is fully grown, and radial aplasia, which means the radius bone in the forearm (the bone on the thumb side) is missing or severely underdeveloped. Craniosynostosis can lead to an abnormally shaped head and potentially increased pressure inside the skull, while radial aplasia causes the forearm and hand to be shorter or differently shaped, often affecting hand and arm function. Because this condition was described in very few cases (originally reported by Imaizumi and colleagues), very little is known about its full range of symptoms, underlying genetic cause, or long-term outlook. Patients and families who suspect they may have this condition should seek evaluation by a clinical geneticist who can help determine whether a more current diagnosis or classification applies. Treatment would generally focus on managing the individual symptoms, including surgery for craniosynostosis and orthopedic interventions for the limb differences.
Also known as:
Key symptoms:
Abnormal head shape due to early fusion of skull bonesMissing or underdeveloped forearm bone (radius)Short or absent thumbCurved or bowed forearmLimited movement of the wrist or handPossible increased pressure inside the skullPossible developmental differences
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 OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type.
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-radial aplasia, Imaizumi type.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.Has this diagnosis been reclassified under a different or more current condition name?,Should my child have genetic testing to look for a specific cause?,When is the best time for craniosynostosis surgery, and what are the risks?,What surgical or non-surgical options are available for the forearm and hand differences?,How often should my child be monitored for increased pressure in the skull?,What therapies can help my child develop the best possible hand and arm function?,Are there other specialists we should be seeing that we haven't considered?
Common questions about OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type
What is OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type?
Craniosynostosis-radial aplasia, Imaizumi type, is an extremely rare condition that was described in medical literature but has since been classified as obsolete in disease databases, meaning it may have been reclassified or merged with another recognized condition. The original description involved two main features: craniosynostosis, which is the premature fusion of one or more of the skull bones in a baby before the brain is fully grown, and radial aplasia, which means the radius bone in the forearm (the bone on the thumb side) is missing or severely underdeveloped. Craniosynostosis can lea
At what age does OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type typically begin?
Typical onset of OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type is neonatal. Age of onset can vary across affected individuals.