Overview
Edinburgh malformation syndrome is an extremely rare genetic condition that was first described in Edinburgh, Scotland. It is associated with a balanced chromosomal rearrangement, specifically a balanced translocation involving chromosomes. The ICD-10 code Q95.2 refers to balanced autosomal rearrangements in abnormal individuals, meaning that although the chromosomes appear to have the correct amount of genetic material, pieces have swapped places between chromosomes, and this rearrangement is linked to physical or developmental problems. People with this syndrome may have a combination of birth defects (malformations) that can affect multiple body systems. Because the condition is so rare, with very few cases reported in the medical literature, the full range of symptoms and their severity is not completely understood. Features may include abnormalities of the face, limbs, or internal organs, along with possible developmental delays. There is currently no cure for Edinburgh malformation syndrome. Treatment is supportive and focuses on managing the specific symptoms each individual has. This may involve surgery for structural birth defects, physical therapy, developmental support, and regular monitoring by a team of specialists. Because so few cases have been described, each patient's care plan is highly individualized based on which body systems are affected.
Also known as:
Key symptoms:
Birth defects affecting multiple body partsFacial abnormalitiesLimb differences or malformationsDevelopmental delayGrowth problemsPossible heart defectsPossible kidney abnormalitiesIntellectual disability in some cases
Clinical phenotype terms (28)— hover any for plain English
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 Edinburgh malformation syndrome.
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View all trials with filters →No actively recruiting trials found for Edinburgh malformation syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Edinburgh malformation 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 Edinburgh malformation 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.What specific chromosomes are involved in my child's translocation, and what genes might be affected?,Which organs should be checked with imaging or other tests?,What developmental therapies should we start, and how soon?,Is this translocation inherited from a parent, or did it happen for the first time in my child?,What is the chance of this happening again in a future pregnancy?,Are there any specialists or centers with experience in this specific condition?,What signs or symptoms should prompt us to seek emergency care?
Common questions about Edinburgh malformation syndrome
What is Edinburgh malformation syndrome?
Edinburgh malformation syndrome is an extremely rare genetic condition that was first described in Edinburgh, Scotland. It is associated with a balanced chromosomal rearrangement, specifically a balanced translocation involving chromosomes. The ICD-10 code Q95.2 refers to balanced autosomal rearrangements in abnormal individuals, meaning that although the chromosomes appear to have the correct amount of genetic material, pieces have swapped places between chromosomes, and this rearrangement is linked to physical or developmental problems. People with this syndrome may have a combination of bi
At what age does Edinburgh malformation syndrome typically begin?
Typical onset of Edinburgh malformation syndrome is neonatal. Age of onset can vary across affected individuals.