Overview
Say-Field-Coldwell syndrome is an extremely rare genetic condition that was originally described in the medical literature but has since been classified as obsolete in some disease databases, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct entity. The syndrome was reported to involve a combination of features including short stature, facial differences, and skeletal abnormalities. Affected individuals were described as having distinctive facial features, reduced growth, and possible intellectual differences. Because this condition is classified as obsolete under Orphanet code 3133, very little current medical literature exists about it. It is possible that cases originally described under this name are now recognized under a different diagnosis as medical understanding has advanced. Patients or families who were given this diagnosis in the past should consult with a clinical geneticist to determine whether a more current diagnosis applies to their condition. Modern genetic testing tools, which were not available when this syndrome was first described, may help clarify the underlying cause and lead to a more precise diagnosis and better management plan.
Key symptoms:
Short statureDistinctive facial featuresSkeletal abnormalitiesPossible intellectual disabilityGrowth delay
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Say-Field-Coldwell syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Say-Field-Coldwell 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: Say-Field-Coldwell 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.Is this diagnosis still considered valid, or should we pursue updated genetic testing?,What modern genetic tests could help clarify my or my child's condition?,Are there any conditions similar to this syndrome that we should be tested for?,What specialists should be part of our care team?,Are there any clinical trials or research studies we could participate in?,What support services are available for growth and developmental concerns?,How often should we schedule follow-up evaluations?
Common questions about OBSOLETE: Say-Field-Coldwell syndrome
What is OBSOLETE: Say-Field-Coldwell syndrome?
Say-Field-Coldwell syndrome is an extremely rare genetic condition that was originally described in the medical literature but has since been classified as obsolete in some disease databases, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct entity. The syndrome was reported to involve a combination of features including short stature, facial differences, and skeletal abnormalities. Affected individuals were described as having distinctive facial features, reduced growth, and possible intellectual difference
At what age does OBSOLETE: Say-Field-Coldwell syndrome typically begin?
Typical onset of OBSOLETE: Say-Field-Coldwell syndrome is childhood. Age of onset can vary across affected individuals.