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Jacobsen syndrome

Jacobsen syndrome: Introduction

Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted. More detailed information about the symptoms, causes, and treatments of Jacobsen syndrome is available below.

Symptoms of Jacobsen syndrome

Treatments for Jacobsen syndrome

  • Treatment varies depending on the type and severity of symptom that develop. Most individuals have a range of medical problems which require evaluation and treatment from a range of specialists such as paediatricians, neurologists, physiotherapists, occupational therapists, special education teachers etc
  • Surgery may be needed to correct defects or abnormalities e.g. heart defects, skull and facial abnormalities
  • Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
  • Various other symptomatic and supportive measures
  • Genetic counseling and joining a support group is recommended
  • more treatments...»

Home Diagnostic Testing

Home medical testing related to Jacobsen syndrome:

Wrongly Diagnosed with Jacobsen syndrome?

Jacobsen syndrome: Related Patient Stories

Jacobsen syndrome: Complications

Review possible medical complications related to Jacobsen syndrome:

Causes of Jacobsen syndrome

Read more about causes of Jacobsen syndrome.

Disease Topics Related To Jacobsen syndrome

Research the causes of these diseases that are similar to, or related to, Jacobsen syndrome:

Jacobsen syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Jacobsen syndrome

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even...read more »

Heart attacks can be undiagnosed: Although the most severe symptoms of heart attack are hard to miss, there are varying degrees of severity. It is altogether too common for people to die from...read more »

Heart attacks can be overdiagnosed: Although many people die from heart attacks, there are also many cases where people fear that they have a heart attack, but actually have something...read more »

Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women,...read more »

Rare heart condition often undiagnosed: The rare heart condition called long QT syndrome can lead to episodes of palpitations and rapid heartbeat. In rare cases, this undiagnosed...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak...read more »

Heart attack can be over-diagnosed: Although heart attack is often undiagnosed, leading to fatality, it can also be over-diagnosed. People become concerned that a condition is a heart attack, whereas there are various less dangerous...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions,...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The ...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia (such as ...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can...read more »

Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more likely in...read more »

Jacobsen syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Jacobsen syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Jacobsen syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to Jacobsen syndrome, on hospital performance and surgical care quality:

Jacobsen syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Jacobsen syndrome

Medical research articles related to Jacobsen syndrome include:

Click here to find more evidence-based articles on the TRIP Database

Jacobsen syndrome: Animations

Prognosis for Jacobsen syndrome

Prognosis for Jacobsen syndrome: The prognosis varies somewhat depending on the type and severity of symptoms that develop. Roughly a quarter of cases result in death within the first months of life due to heart or breathing problems. Survivors tend to have retarded growth, small heads and mental retardation. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.

Research about Jacobsen syndrome

Visit our research pages for current research about Jacobsen syndrome treatments.

Statistics for Jacobsen syndrome

Jacobsen syndrome: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Jacobsen syndrome, or answer someone else's question, on our message boards:

Definitions of Jacobsen syndrome:

Deletion of the long arm of chromosome 11 with retarded growth and psychomotor development, trigonocephaly, strabismus, short and broad nose with anteverted nostrils, epicanthus, telecanthus, malformed ears, "carp mouth", camptodactyly, and thrombocytopenia. - (Source - Diseases Database)

Jacobsen syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Jacobsen syndrome, or a subtype of Jacobsen syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Jacobsen syndrome as a "rare disease".
Source - Orphanet

 

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