11q Deletion Syndrome

11q Deletion Syndrome

Article
Brain & Nerve
Bone, Muscle, & Joint
+7
Contributed byKrish Tangella MD, MBAFeb 06, 2024

The topic 11q Deletion Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Jacobsen Syndrome.

Quick Summary:

  • Jacobsen Syndrome, also known as Chromosome 11q Deletion Syndrome, is a rare chromosomal disorder. In this syndrome, there is a loss of genetic material in the long arm of chromosome 11
  • Approximately (and only) 5-10% of individuals with Jacobsen Syndrome (JBS) have a family history of the condition. Since nearly two-thirds of the reported cases are in females, belonging to the female gender may be considered a risk factor for JBS
  • The types and severity of symptoms depends upon the amount of genetic material lost. Severity of Jacobsen Syndrome also depends on whether an individual has a mixture of normal and abnormal cells (mosaicism), or if all of their cells are abnormal
  • The main signs and symptoms of Jacobsen Syndrome are distinctive facial features (small ears, widely-spaced eyes, droopy eyelids), developmental delays (affecting speech, motor skills, coordination), problems with cognition (learning disability), behavioral issues (attention deficiency), and abnormal bleeding owing to abnormal platelets
  • A healthcare professional typically uses physical examination, assessment of symptoms, and genetic testing, in order to diagnose and confirm Jacobsen Syndrome
  • Many complications can arise in individuals with Jacobsen Syndrome including heart disease, frequent infections, skeletal abnormalities, gastrointestinal (GI) tract problems, kidney malfunction, and forceful vomiting
  • The management of Jacobsen Syndrome typically requires a team of qualified specialists from various disciplines including speech therapy, behavioral therapy, cardiology, neurology, and ophthalmology, along with the active support of family members
  • Jacobsen Syndrome is fatal in about 1 in 5 cases; the deaths are reported within the first 2 years of life. There are reports of some individuals reaching adulthood; however, a majority of individuals have significantly shortened life spans

Please find comprehensive information on Jacobsen Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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