Overview
14q24.1q24.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (microdeletion) of chromosome 14, specifically in the region labeled q24.1 to q24.3. This means that a tiny segment of genetic material that normally provides instructions for the body's development is absent. Because several genes are lost in this deletion, the syndrome can affect multiple body systems. Children born with this condition typically show developmental delay, intellectual disability, and distinctive facial features. Speech and language development are often significantly delayed. Some individuals may also have growth problems, feeding difficulties in infancy, and behavioral challenges. Seizures have been reported in some cases. The facial features may include a broad forehead, widely spaced eyes, a short nose, and a thin upper lip, though these can vary from person to person. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms and supporting development. This includes early intervention programs such as speech therapy, occupational therapy, and physical therapy. Children may benefit from special education services. Seizures, if present, are managed with anti-epileptic medications. A team of specialists typically works together to address the various needs of affected individuals. Because so few cases have been described in the medical literature, the full range of symptoms and long-term outcomes is still being understood.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysDistinctive facial featuresLow muscle tone in infancyFeeding difficulties in early lifeGrowth delay or short statureSeizures or epilepsyBehavioral difficultiesLearning disabilitiesWidely spaced eyesBroad foreheadSmall or receding chinDelayed motor milestones such as sitting and walking
Clinical phenotype terms (24)— 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 14q24.1q24.3 microdeletion syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 14q24.1q24.3 microdeletion syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for 14q24.1q24.3 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 14q24.1q24.3 microdeletion syndrome.
Community
No community posts yet. Be the first to share your experience with 14q24.1q24.3 microdeletion syndrome.
Start the conversation →Latest news about 14q24.1q24.3 microdeletion syndrome
No recent news articles for 14q24.1q24.3 microdeletion syndrome.
Follow this condition to be notified when news becomes available.
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 and location of my child's deletion, and which genes are affected?,What therapies should we start right away, and how often should they occur?,Should my child be monitored for seizures, and what signs should I watch for?,Are there any other medical tests or screenings my child needs regularly?,Was this deletion inherited from a parent, or did it happen for the first time in my child?,What educational supports and services should we request from the school?,Are there any research studies or registries we can participate in?
Common questions about 14q24.1q24.3 microdeletion syndrome
What is 14q24.1q24.3 microdeletion syndrome?
14q24.1q24.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (microdeletion) of chromosome 14, specifically in the region labeled q24.1 to q24.3. This means that a tiny segment of genetic material that normally provides instructions for the body's development is absent. Because several genes are lost in this deletion, the syndrome can affect multiple body systems. Children born with this condition typically show developmental delay, intellectual disability, and distinctive facial features. Speech and language development are often significantly de
At what age does 14q24.1q24.3 microdeletion syndrome typically begin?
Typical onset of 14q24.1q24.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.