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Diseases » Jacobsen syndrome » Summary
 

What is Jacobsen syndrome?

What is Jacobsen syndrome?

  • 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.
  • 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

Jacobsen syndrome: Introduction

Types of Jacobsen syndrome:

Broader types of Jacobsen syndrome:

How serious is Jacobsen syndrome?

Prognosis of 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.
Complications of Jacobsen syndrome: see complications of Jacobsen syndrome

What causes Jacobsen syndrome?

Causes of Jacobsen syndrome: see causes of Jacobsen syndrome

What are the symptoms of Jacobsen syndrome?

Symptoms of Jacobsen syndrome: see symptoms of Jacobsen syndrome

Complications of Jacobsen syndrome: see complications of Jacobsen syndrome

Jacobsen syndrome: Testing

Diagnostic testing: see tests for Jacobsen syndrome.

Misdiagnosis: see misdiagnosis and Jacobsen syndrome.

How is it treated?

Doctors and Medical Specialists for Jacobsen syndrome: Medical Geneticist ; see also doctors and medical specialists for Jacobsen syndrome.
Treatments for Jacobsen syndrome: see treatments for Jacobsen syndrome
Research for Jacobsen syndrome: see research for Jacobsen syndrome

Name and Aliases of Jacobsen syndrome

Main name of condition: Jacobsen syndrome

Other names or spellings for Jacobsen syndrome:

distal deletion 11q, distal monosomy 11q, monosomy 11qter, telomeric deletion 11q, JBS, Chromosome 11q deletion syndrome, Partial 11q monosomy syndrome

Chromosome 11q deletion syndrome, Chromosome 11q monosomy Source - Diseases Database

11q - deletion syndrome, Deletion 11q Syndrome, Partial, Distal 11q Monosomy, Partial 11q monosomy syndrome, Partial Monosomy of Long Arm of Chromosome 11
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Jacobsen syndrome: Related Conditions

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

 

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