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
Documentation regarding chromosome 17p13.1 deletion syndrome is limited due to its rarity and the complexity of its clinical features. As this condition affects a small population, systematic studies are scarce, which hinders comprehensive understanding and characterization. The genetic basis of the condition has not been fully elucidated, leading to challenges in clinical documentation and research.
The clinical presentation of chromosome 17p13.1 deletion syndrome primarily includes global developmental delay, which is always present. Many individuals also experience intellectual disability and hypotonia. Facial features such as telecanthus and epicanthus are frequently observed, along with other characteristics like posteriorly rotated ears and microcephaly. While some features occur in a smaller percentage of patients, they contribute to the overall clinical picture of this condition.
To navigate chromosome 17p13.1 deletion syndrome, consider consulting with a geneticist or a specialist in developmental disorders who has experience with rare genetic syndromes. Engaging with a genetic counselor can also be beneficial for understanding inheritance patterns and family planning. While there are currently no specific patient organizations for this syndrome, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participation in any available clinical trials that may offer further insights into the condition.
Currently, there is one active clinical trial related to chromosome 17p13.1 deletion syndrome. This trial may provide insights into potential therapeutic approaches and management strategies. For more details about this trial, you can visit ClinicalTrials.gov and search for 'chromosome 17p13.1 deletion syndrome'.
Actionable guidance for navigating care for chromosome 17p13.1 deletion syndrome
To navigate chromosome 17p13.1 deletion syndrome, consider consulting with a geneticist or a specialist in developmental disorders who has experience with rare genetic syndromes. Engaging with a genetic counselor can also be beneficial for understanding inheritance patterns and family planning. While there are currently no specific patient organizations for this syndrome, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participation in any available clinical trials that may offer further insights into 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
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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