Overview
19p13.13 microdeletion syndrome is a rare genetic condition caused by a small missing piece (microdeletion) of chromosome 19 at a specific location called 19p13.13. This means that a tiny segment of genetic material is lost, which can affect the development and function of the brain and other parts of the body. Because several genes are missing in this region, the condition can cause a range of symptoms that vary from person to person. The most common features include intellectual disability, speech and language delays, and developmental delays in childhood. Many affected individuals also experience seizures or epilepsy, behavioral challenges such as autism spectrum features or attention difficulties, and distinctive facial features that may be subtle. Some children may have feeding difficulties in infancy, low muscle tone (hypotonia), and problems with fine or gross motor skills. There is currently no cure for 19p13.13 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically includes speech therapy, occupational therapy, physical therapy, special education services, and medications to control seizures when they occur. Early intervention programs can make a meaningful difference in a child's development and quality of life. A team of specialists usually works together to provide the best care for each individual.
Also known as:
Key symptoms:
Intellectual disabilitySpeech and language delaysDevelopmental delaysSeizures or epilepsyLow muscle tone (floppiness)Feeding difficulties in infancyBehavioral problemsAutism-like featuresAttention difficultiesDistinctive facial featuresDelayed motor milestones like walkingLearning difficultiesShort stature in some casesSmall head size (microcephaly)
Clinical phenotype terms (47)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 19p13.13 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 19p13.13 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 19p13.13 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 and location of my child's deletion, and which genes are affected?,What developmental therapies should we start right away?,Does my child need to be evaluated for seizures or epilepsy?,What is the chance that future children could have the same condition?,Are there any clinical trials or research studies we should know about?,How often should my child have follow-up appointments and with which specialists?,What educational supports and accommodations should we request at school?
Common questions about 19p13.13 microdeletion syndrome
What is 19p13.13 microdeletion syndrome?
19p13.13 microdeletion syndrome is a rare genetic condition caused by a small missing piece (microdeletion) of chromosome 19 at a specific location called 19p13.13. This means that a tiny segment of genetic material is lost, which can affect the development and function of the brain and other parts of the body. Because several genes are missing in this region, the condition can cause a range of symptoms that vary from person to person. The most common features include intellectual disability, speech and language delays, and developmental delays in childhood. Many affected individuals also exp
At what age does 19p13.13 microdeletion syndrome typically begin?
Typical onset of 19p13.13 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.