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
See full list of 39
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...»
Read more about treatments for Jacobsen syndrome
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...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...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 milder....read more »
Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder
called Von Willebrand's disease is quite common in women, but often...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 condition can be fatal.
It should be...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...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...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...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 can be over-diagnosed
(it can, of course, also fail to be...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...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 those causing a...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...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...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 variety of symptoms can occur in post...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical...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 children.
Some of...read more »
Read more about Misdiagnosis and Jacobsen syndrome
Jacobsen syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Cholesterol Specialists:
- Cardiac (Heart) Specialists:
- Neurology (Brain/CNS Specialists):
- more 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:
Hospital & Clinic quality ratings »
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
More Jacobsen syndrome animations & videos
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.
More about prognosis of Jacobsen syndrome
Research about Jacobsen syndrome
Visit our research pages for current research about Jacobsen syndrome treatments.
Statistics for Jacobsen syndrome
Jacobsen syndrome: Broader Related Topics
Types of Jacobsen syndrome
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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