Overview
20q13.33 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of genetic material on the long arm of chromosome 20, specifically at the region labeled 13.33. This region contains several genes that play important roles in brain development and body growth. Because these genes are missing, affected individuals typically experience developmental delays, intellectual disability, and distinctive facial features. The syndrome may also be referred to as distal 20q deletion or subtelomeric 20q deletion. Children with this condition often show delays in reaching milestones such as sitting, walking, and talking. Many have learning difficulties that range from mild to moderate. Some individuals may also have behavioral challenges, seizures, and problems with muscle tone (either too floppy or too stiff). Facial features can include a broad forehead, widely spaced eyes, a flat nasal bridge, and ear abnormalities, though these vary from person to person. There is currently no cure for 20q13.33 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically includes early intervention programs, speech therapy, physical therapy, occupational therapy, and special education services. Seizures, if present, are managed with anti-seizure medications. Regular follow-up with a team of specialists is important to monitor growth, development, and any emerging medical concerns.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysLow muscle tone (floppiness)Seizures or epilepsyDistinctive facial featuresBehavioral difficultiesFeeding problems in infancyShort stature or growth delayWidely spaced eyesBroad foreheadFlat nasal bridgeEar abnormalitiesMotor coordination problemsLearning difficulties
Clinical phenotype terms (43)— 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 20q13.33 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 20q13.33 microdeletion 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 20q13.33 microdeletion 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 is the exact size of my child's deletion, and which genes are affected?,Was this deletion inherited or did it happen for the first time in my child?,What therapies should we start right away, and how often should they occur?,Does my child need to be monitored for seizures, and what should I watch for?,Are there any other medical tests or screenings my child should have?,What is the long-term outlook for my child's development and independence?,Are there any research studies or patient registries we should consider joining?
Common questions about 20q13.33 microdeletion syndrome
What is 20q13.33 microdeletion syndrome?
20q13.33 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of genetic material on the long arm of chromosome 20, specifically at the region labeled 13.33. This region contains several genes that play important roles in brain development and body growth. Because these genes are missing, affected individuals typically experience developmental delays, intellectual disability, and distinctive facial features. The syndrome may also be referred to as distal 20q deletion or subtelomeric 20q deletion. Children with this condition often show delays in r
At what age does 20q13.33 microdeletion syndrome typically begin?
Typical onset of 20q13.33 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.