16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostl...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
The documentation for chromosome 16p13.3 duplication syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity results in a lack of extensive clinical studies and systematic documentation. Additionally, the variable expressivity of symptoms complicates the characterization of the condition, making it challenging for researchers and clinicians to gather comprehensive data.
Key clinical features of chromosome 16p13.3 duplication syndrome include proximal placement of the thumb (30-79% of cases), sandal gap (30-79%), upslanted palpebral fissures (30-79%), and global developmental delay (30-79%). Other features may include protruding ears, camptodactyly, and hypertelorism, with additional manifestations like cryptorchidism and inguinal hernia reported in some individuals. These phenotypes can vary widely, contributing to the complexity of diagnosis and management.
To navigate your care effectively, consider seeking a geneticist or a specialist in genetic disorders who has experience with chromosomal anomalies. They can provide guidance on management and potential genetic counseling. Additionally, you may want to explore clinical trials that are currently available, which can offer access to cutting-edge research and treatments. For resources, visit the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support options.
Currently, there are no orphan drugs designated for chromosome 16p13.3 duplication syndrome. However, there is one active clinical trial focusing on this condition. You can find more information on ongoing research and potential participation opportunities by visiting ClinicalTrials.gov and searching for 'chromosome 16p13.3 duplication syndrome.' This trial may provide insights into the management and understanding of the syndrome.
Actionable guidance for navigating care for chromosome 16p13.3 duplication syndrome
To navigate your care effectively, consider seeking a geneticist or a specialist in genetic disorders who has experience with chromosomal anomalies. They can provide guidance on management and potential genetic counseling. Additionally, you may want to explore clinical trials that are currently available, which can offer access to cutting-edge research and treatments. For resources, visit the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
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