Overview
Proximal 16p11.2 microduplication syndrome is a genetic condition caused by having an extra small piece of chromosome 16 at a specific location known as 16p11.2. This extra genetic material disrupts normal development, particularly affecting the brain and body growth. The condition is also sometimes called 16p11.2 duplication syndrome or proximal 16p11.2 duplication. People with this syndrome often experience developmental delays, speech and language difficulties, and may have a lower-than-average body weight or be underweight. Some individuals have intellectual disability, which can range from mild to moderate, while others have normal intelligence but may struggle with learning or behavior. Autism spectrum disorder and psychiatric conditions such as ADHD, anxiety, or schizophrenia have been reported in some individuals. Seizures can also occur in a small number of affected people. The features of this condition vary widely, even among members of the same family. Some people with the duplication have very mild or no noticeable symptoms, while others are more significantly affected. There is no cure for this syndrome, but early intervention services such as speech therapy, occupational therapy, and behavioral support can make a meaningful difference. Treatment focuses on managing individual symptoms and supporting development throughout life.
Also known as:
Key symptoms:
Speech and language delaysDevelopmental delaysLearning difficultiesIntellectual disability (mild to moderate)Underweight or low body mass indexAutism spectrum featuresAttention deficit hyperactivity disorder (ADHD)Anxiety or mood disordersSeizures or epilepsyBehavioral challengesPoor coordination or motor delaysSmall head size (microcephaly) in some casesPsychiatric conditions such as schizophrenia in some adultsFeeding difficulties in infancy
Clinical phenotype terms (38)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Proximal 16p11.2 microduplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for Proximal 16p11.2 microduplication 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 Proximal 16p11.2 microduplication 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
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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.How severe is my child's duplication, and what symptoms should I watch for?,Was this duplication inherited or did it happen for the first time in my child?,What early intervention therapies do you recommend starting now?,Should other family members be tested for this duplication?,What is the risk of seizures or psychiatric conditions developing later?,How often should my child have developmental and medical check-ups?,Are there any clinical trials or research studies we could participate in?
Common questions about Proximal 16p11.2 microduplication syndrome
What is Proximal 16p11.2 microduplication syndrome?
Proximal 16p11.2 microduplication syndrome is a genetic condition caused by having an extra small piece of chromosome 16 at a specific location known as 16p11.2. This extra genetic material disrupts normal development, particularly affecting the brain and body growth. The condition is also sometimes called 16p11.2 duplication syndrome or proximal 16p11.2 duplication. People with this syndrome often experience developmental delays, speech and language difficulties, and may have a lower-than-average body weight or be underweight. Some individuals have intellectual disability, which can range fr
How is Proximal 16p11.2 microduplication syndrome inherited?
Proximal 16p11.2 microduplication syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Proximal 16p11.2 microduplication syndrome typically begin?
Typical onset of Proximal 16p11.2 microduplication syndrome is childhood. Age of onset can vary across affected individuals.