Jacobsen Syndrome

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Introduction

Jacobsen syndrome (JS) is a rare congenital disorder that results from a deletion of genetic material from the long arm of chromosome 11, also known as 11q terminal deletion disorder. The size and location of the deletion vary among individuals, leading to a wide range of phenotypic features and clinical outcomes. JS affects approximately 1 in 100,000 live births, and is more common in females than males. The deletion can occur spontaneously or be inherited from a parent who carries a balanced translocation involving chromosome 11. JS is named after the Danish physician Petra Jacobsen, who first described the syndrome in 1973.

Clinical Manifestations

Jacobsen syndrome (JS) is a rare congenital disorder that causes various physical, cognitive, and behavioral problems due to a deletion of genetic material from chromosome 11. The size and location of the deletion determine the severity and frequency of the symptoms, which can range from mild to life-threatening. Some of the most common and characteristic features of JS are:

  • Distinctive facial appearance, such as small and low-set ears, widely set eyes, broad nasal bridge, thin upper lip, etc.
  • Congenital heart defects, such as holes in the walls of the heart, abnormal connection between the arteries, narrowing or underdevelopment of the aorta, etc.
  • Bleeding disorder called paris-trousseau syndrome, which causes abnormal bleeding and easy bruising due to reduced number and function of platelets.
  • Delayed development, learning difficulties, intellectual disability, attention-deficit/hyperactivity disorder (adhd), autism spectrum disorder (asd), and other cognitive and behavioral problems.
  • Short stature, frequent infections, skeletal abnormalities, eye problems, digestive problems, kidney problems, genital problems, and other physical problems.

The clinical manifestations of JS are highly variable and complex among individuals, even within the same family. The prognosis and life expectancy of individuals with JS depend on the type and severity of the manifestations, as well as the availability and effectiveness of treatment and management.

Clinical Diagnosis

Jacobsen syndrome (JS) is a genetic condition that can be diagnosed by examining the chromosomes and genes of affected individuals. There are several methods and techniques that can be used for this purpose, such as karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). These methods can detect different sizes and locations of deletions in chromosome 11 that cause JS, and provide varying levels of detail and accuracy. There are also some diagnostic criteria and guidelines that have been proposed for JS, based on the clinical features and genetic findings of affected individuals. However, these criteria and guidelines are not definitive or universally accepted, and they may not cover all possible cases of JS. Therefore, a comprehensive genetic analysis is recommended for confirming the diagnosis of JS. Diagnosing JS can be challenging and complicated, due to several factors such as the rarity of the condition, the variability and complexity of the clinical manifestations and genetic deletions, the overlap with other syndromes that share some features with JS, and the lack of standardized protocols and resources for diagnosing and managing JS. Therefore, a multidisciplinary approach involving various specialists and experts is recommended for diagnosing and treating JS.

Treatment Options

Jacobsen syndrome (JS) is a genetic condition that has no cure, but the symptoms and complications can be treated and managed. The treatment options depend on the type and severity of the manifestations, as well as the individual needs and preferences of the affected person and their family. Some of the possible treatment options are:

  • Cardiology-related treatments, such as surgery, medication, or other interventions to correct or manage congenital heart defects.
  • Growth hormone therapy to help increase height and improve growth and development.
  • Blood transfusions to prevent or treat bleeding episodes due to low platelet count.
  • Supportive care, such as physical therapy, occupational therapy, speech therapy, special education, counseling, medication, or other interventions to address physical, cognitive, and behavioral problems.
  • Gene therapy, which is an experimental technique that aims to replace or modify the defective genes that cause JS.

The treatment options for JS are not limited to the ones mentioned above, and they may change over time as new research and technologies emerge. Therefore, it is important for individuals with JS and their families to consult with various specialists and experts, and to seek updated information and resources about JS.

References

  1. Favier R, et al. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50.
  2. Lee HJ, et al. Jacobsen syndrome with bilateral periventricular white matter lesions. World J Pediatr. 2022 Feb;18(2):142-143.
  3. Nigolian H, et al. Immunodeficiency and Lymphoma in Jacobsen Syndrome. J Investig Allergol Clin Immunol. 2022 Oct 11;32(5):408-409.
  4. Ye M, et al. Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function. 2016 Jun 25.
  5. Nalbantoğlu B, et al. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. Turk J Pediatr. 2013 Mar-Apr;55(2):203-6.
  6. Ferrigno F, et al. Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation. J Cardiovasc Dev Dis. 2022 Dec 24;10(1):8.
  7. Pivnick EK, et al. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet. 1996 Sep;33(9):772-8.
  8. Özdemir Ö. Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma. J Investig Allergol Clin Immunol. 2023 Apr;33(2):154-155.
  9. Yalcintepe S, et al. First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25). Mol Syndromol. 2022 May;13(3):235-239.
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