A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neuro...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation on chromosome 17q11.2 deletion syndrome is limited primarily due to its rarity, which affects fewer than a few thousand individuals worldwide. This scarcity leads to challenges in conducting systematic clinical studies and gathering comprehensive data. Additionally, the genetic basis of this condition has not been fully elucidated, and ongoing clinical characterization is necessary to better understand its implications.
Key clinical features of chromosome 17q11.2 deletion syndrome include: axillary freckling (80-99%), Lisch nodules (80-99%), cognitive impairment (80-99%), cafe-au-lait spots (80-99%), and neurofibromas (80-99%). Other notable features may include hypertelorism (80-99%), coarse facial features (30-79%), broad neck (30-79%), short attention span (30-79%), and hypotonia (30-79%). These manifestations can significantly impact the quality of life and require ongoing management.
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning options.
Actionable guidance for navigating care for chromosome 17q11.2 deletion syndrome, 1.4Mb
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on chromosome 17q11.2 deletion syndrome is limited primarily due to its rarity, which affects fewer than a few thousand individuals worldwide. This scarcity leads to challenges in conducting systematic clinical studies and gathering comprehensive data. Additionally, the genetic basis of this condition has not been fully elucidated, and ongoing clinical characterization is necessary to better understand its implications.
Key clinical features of chromosome 17q11.2 deletion syndrome include: axillary freckling (80-99%), Lisch nodules (80-99%), cognitive impairment (80-99%), cafe-au-lait spots (80-99%), and neurofibromas (80-99%). Other notable features may include hypertelorism (80-99%), coarse facial features (30-79%), broad neck (30-79%), short attention span (30-79%), and hypotonia (30-79%). These manifestations can significantly impact the quality of life and require ongoing management.
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning options.
Actionable guidance for navigating care for chromosome 17q11.2 deletion syndrome, 1.4Mb
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on chromosome 17q11.2 deletion syndrome is limited primarily due to its rarity, which affects fewer than a few thousand individuals worldwide. This scarcity leads to challenges in conducting systematic clinical studies and gathering comprehensive data. Additionally, the genetic basis of this condition has not been fully elucidated, and ongoing clinical characterization is necessary to better understand its implications.
Key clinical features of chromosome 17q11.2 deletion syndrome include: axillary freckling (80-99%), Lisch nodules (80-99%), cognitive impairment (80-99%), cafe-au-lait spots (80-99%), and neurofibromas (80-99%). Other notable features may include hypertelorism (80-99%), coarse facial features (30-79%), broad neck (30-79%), short attention span (30-79%), and hypotonia (30-79%). These manifestations can significantly impact the quality of life and require ongoing management.
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning options.
Actionable guidance for navigating care for chromosome 17q11.2 deletion syndrome, 1.4Mb
To navigate your care effectively, consider consulting with a geneticist or a neurologist who specializes in neurogenetic disorders. These specialists can provide insights into the management of symptoms and potential risks associated with the condition. While there are currently no designated patient organizations for this syndrome, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support. Genetic counseling may also be beneficial for understanding the implications of the sporadic inheritance pattern and discussing family planning 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.
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
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.