A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on Jacobsen syndrome is limited due to its rarity, as it affects fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the scope of systematic clinical studies and comprehensive genetic research, making it challenging to gather extensive clinical data. The condition's complexity and the overlap with other syndromes further complicate the characterization of its clinical features.
The clinical features of Jacobsen syndrome primarily include microcephaly, which is always present, along with global developmental delay and intrauterine growth retardation, both of which are also consistently observed. These features can significantly impact the individual's growth and development, necessitating tailored support and intervention strategies.
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Currently, there are no orphan drug designations for Jacobsen syndrome; however, there is one active clinical trial that may offer insights into the condition. You can explore this trial further by visiting ClinicalTrials.gov and searching for Jacobsen syndrome. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for Jacobsen syndrome
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Jacobsen syndrome community
Helpful links for rare disease information and support
Documentation on Jacobsen syndrome is limited due to its rarity, as it affects fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the scope of systematic clinical studies and comprehensive genetic research, making it challenging to gather extensive clinical data. The condition's complexity and the overlap with other syndromes further complicate the characterization of its clinical features.
The clinical features of Jacobsen syndrome primarily include microcephaly, which is always present, along with global developmental delay and intrauterine growth retardation, both of which are also consistently observed. These features can significantly impact the individual's growth and development, necessitating tailored support and intervention strategies.
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Currently, there are no orphan drug designations for Jacobsen syndrome; however, there is one active clinical trial that may offer insights into the condition. You can explore this trial further by visiting ClinicalTrials.gov and searching for Jacobsen syndrome. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for Jacobsen syndrome
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Jacobsen syndrome community
Helpful links for rare disease information and support
Documentation on Jacobsen syndrome is limited due to its rarity, as it affects fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the scope of systematic clinical studies and comprehensive genetic research, making it challenging to gather extensive clinical data. The condition's complexity and the overlap with other syndromes further complicate the characterization of its clinical features.
The clinical features of Jacobsen syndrome primarily include microcephaly, which is always present, along with global developmental delay and intrauterine growth retardation, both of which are also consistently observed. These features can significantly impact the individual's growth and development, necessitating tailored support and intervention strategies.
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Currently, there are no orphan drug designations for Jacobsen syndrome; however, there is one active clinical trial that may offer insights into the condition. You can explore this trial further by visiting ClinicalTrials.gov and searching for Jacobsen syndrome. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for Jacobsen syndrome
To navigate Jacobsen syndrome, consider consulting with a geneticist who specializes in congenital anomalies and genetic syndromes. They can provide insights into the condition and help with any necessary genetic counseling. Additionally, the European Chromosome 11q Network offers resources and support for families affected by this syndrome. You can access their website at http://chromosome11.eu for more information. Participating in patient registries or natural history studies can also provide valuable data and support.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Jacobsen syndrome community
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 Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 peer-reviewed source from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.