Overview
Cortada-Koussef-Matsumoto syndrome is an extremely rare genetic condition that was originally described in the medical literature based on a very small number of cases. The term is now considered obsolete in current medical classifications, meaning it may have been reclassified, merged with another condition, or its original description may no longer be recognized as a distinct syndrome. The condition was reported to involve a combination of skeletal abnormalities, facial features that differ from typical development, and other birth defects. Patients described in the original reports had features such as unusual facial appearance, limb abnormalities, and possible intellectual disability. Because this syndrome designation is obsolete, patients who were previously given this diagnosis may now fall under a different or updated diagnostic category. If you or a family member has been told about this condition, it is important to work with a clinical geneticist who can review the original findings and determine whether a more current diagnosis applies. Modern genetic testing tools, such as whole exome or whole genome sequencing, may help clarify the underlying genetic cause and guide appropriate management. Treatment has generally been supportive and symptom-based, as no specific therapy was developed for this condition.
Key symptoms:
Unusual facial featuresSkeletal abnormalitiesLimb differencesShort staturePossible intellectual disabilityBirth defects affecting multiple body systems
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Cortada-Koussef-Matsumoto syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cortada-Koussef-Matsumoto 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: Cortada-Koussef-Matsumoto 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.Since this diagnosis is now considered obsolete, what is the most current name or classification for my condition?,Would modern genetic testing help clarify the underlying cause?,What specialists should I be seeing regularly?,Are there any specific complications I should watch for?,What therapies or support services would benefit me or my child?,Are there any related conditions I should learn about?,Can you help connect me with other families who have similar features?
Common questions about OBSOLETE: Cortada-Koussef-Matsumoto syndrome
What is OBSOLETE: Cortada-Koussef-Matsumoto syndrome?
Cortada-Koussef-Matsumoto syndrome is an extremely rare genetic condition that was originally described in the medical literature based on a very small number of cases. The term is now considered obsolete in current medical classifications, meaning it may have been reclassified, merged with another condition, or its original description may no longer be recognized as a distinct syndrome. The condition was reported to involve a combination of skeletal abnormalities, facial features that differ from typical development, and other birth defects. Patients described in the original reports had feat
At what age does OBSOLETE: Cortada-Koussef-Matsumoto syndrome typically begin?
Typical onset of OBSOLETE: Cortada-Koussef-Matsumoto syndrome is neonatal. Age of onset can vary across affected individuals.