Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intell...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation about chromosome 16p11.2 duplication syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the scope of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the genetic basis has not been fully elucidated, which complicates the understanding of its clinical manifestations.
The clinical features of chromosome 16p11.2 duplication syndrome include intellectual disability and delayed speech and language development, both of which are always present. Other common features, occurring in 30-79% of individuals, include motor delay, deeply set eyes, a flat face, smooth philtrum, hypertelorism, thin upper lip vermilion, frontal bossing, and sparse eyebrows. These features can vary widely in severity among affected individuals.
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
Currently, there is one active clinical trial investigating chromosome 16p11.2 duplication syndrome. While there are no orphan drugs designated for this condition, participation in clinical trials may provide access to new treatment approaches and contribute to the understanding of the syndrome. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'chromosome 16p11.2 duplication syndrome'.
Actionable guidance for navigating care for chromosome 16p11.2 duplication syndrome
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation about chromosome 16p11.2 duplication syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the scope of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the genetic basis has not been fully elucidated, which complicates the understanding of its clinical manifestations.
The clinical features of chromosome 16p11.2 duplication syndrome include intellectual disability and delayed speech and language development, both of which are always present. Other common features, occurring in 30-79% of individuals, include motor delay, deeply set eyes, a flat face, smooth philtrum, hypertelorism, thin upper lip vermilion, frontal bossing, and sparse eyebrows. These features can vary widely in severity among affected individuals.
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
Currently, there is one active clinical trial investigating chromosome 16p11.2 duplication syndrome. While there are no orphan drugs designated for this condition, participation in clinical trials may provide access to new treatment approaches and contribute to the understanding of the syndrome. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'chromosome 16p11.2 duplication syndrome'.
Actionable guidance for navigating care for chromosome 16p11.2 duplication syndrome
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation about chromosome 16p11.2 duplication syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the scope of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the genetic basis has not been fully elucidated, which complicates the understanding of its clinical manifestations.
The clinical features of chromosome 16p11.2 duplication syndrome include intellectual disability and delayed speech and language development, both of which are always present. Other common features, occurring in 30-79% of individuals, include motor delay, deeply set eyes, a flat face, smooth philtrum, hypertelorism, thin upper lip vermilion, frontal bossing, and sparse eyebrows. These features can vary widely in severity among affected individuals.
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
Currently, there is one active clinical trial investigating chromosome 16p11.2 duplication syndrome. While there are no orphan drugs designated for this condition, participation in clinical trials may provide access to new treatment approaches and contribute to the understanding of the syndrome. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'chromosome 16p11.2 duplication syndrome'.
Actionable guidance for navigating care for chromosome 16p11.2 duplication syndrome
To navigate chromosome 16p11.2 duplication syndrome, consider consulting a clinical geneticist or a pediatric neurologist with expertise in developmental disorders. These specialists can provide guidance on managing symptoms and may recommend genetic counseling to discuss family planning options. While there are no specific patient organizations identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about participation in any available natural history studies or registries to help advance understanding of the condition.
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.
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