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Jacobsen syndrome

Jacobsen syndrome 

Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. Other features may include compulsive behavior; attention deficit-hyperactivity disorder (ADHD); congenital heart defects; short stature; and/or skeletal abnormalities. In most cases, the deletion that causes Jacobsen syndrome is not inherited and occurs randomly due to an error in cell division. In some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation. Treatment depends on the specific symptoms in each affected person.

Symptoms

The signs and symptoms of Jacobsen syndrome can vary. Most affected people have delayed development of motor skills and speech; cognitive impairment; and learning difficulties. Behavioral features have been reported and may include compulsive behavior; a short attention span; and distractibility. Many people with the condition are diagnosed with attention deficit-hyperactivity disorder (ADHD). The vast majority of people with Jacobsen syndrome also have a bleeding disorder called Paris-Trousseau syndrome, which causes abnormal bleeding and easy bruising. 

People with Jacobsen syndrome typically have distinctive facial features, which include small and low-set ears; wide-set eyes (hypertelorism) with droopy eyelids (ptosis); skin folds covering the inner corner of the eyes; a broad nasal bridge; down-turned corners of the mouth; a thin upper lip; and a small lower jaw (micrognathia). Affected people often have a large head (macrocephaly) and a skull abnormality called trigonocephaly, giving the forehead a pointed appearance.

Other signs and symptoms of the condition may include congenital heart defects; short stature; feeding difficulties in infancy; frequent ear and sinus infections; and skeletal (bone) abnormalities.

Cause

Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected people, but the deleted area almost always includes the tip of chromosome 11. The specific features of Jacobsen syndrome relate to the loss of multiple genes within the deleted region. While the exact function of some of the genes involved is unclear, they appear to be critical for normal development of many parts of the body. In general, larger deletions cause more severe signs and symptoms than smaller deletions.

In about 85% of cases, the deletion is due to a random error during the formation of the egg or sperm, or an error in cell division in early fetal development. This is called a de novo deletion. In about 15% of cases, the deletion is caused by a parent having a balanced translocation or from other, rare types of chromosome rearrangements.Although Jacobsen syndrome is typically not inherited, an affected person can pass the deletion on to his/her children.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

There is no cure for Jacobsen syndrome; treatment generally focuses on the specific signs and symptoms present in each individual. Treatment may require the coordinated efforts of a team of various specialists.

Individuals with low platelet counts (thrombocytopenia) should be monitored regularly. Blood or platelet transfusions may be necessary before or during surgeries. Surgery may be needed to repair various malformations associated with the condition. Complications of certain congenital heart defects (such as rapid heartbeat or fluid accumulation) may be treated with a variety of drugs. Respiratory infections should be treated vigorously and early. Because of the risk of bacterial infection of the heart lining (endocarditis) and valves, those with certain heart defects may need antibiotics before any surgery.

Eye abnormalities may be treated with surgery, glasses, contact lenses, and/or other measures to improve visual problems. Abnormalities of the joints, tendons, muscles, and bones may be treated by orthopedic techniques, potentially in combination with surgery. Physical therapy may help improve coordination and mobility. Early intervention is important to ensure that affected children reach their full potential.

Frequently Asked Questions

What is Jacobsen syndrome?

What is Jacobsen syndrome?

Jacobsen syndrome is a genetic condition characterized by the deletion of several genes on chromosome 11. It can cause a range of symptoms including cognitive impairment, delayed development of motor skills and speech, distinctive facial features, and congenital heart defects.

What are the typical symptoms of Jacobsen syndrome?

What are the typical symptoms of Jacobsen syndrome?

Common symptoms include delayed development of motor skills and speech, cognitive impairment, learning difficulties, distinctive facial features, attention deficit-hyperactivity disorder (ADHD), Paris-Trousseau syndrome (a bleeding disorder), congenital heart defects, short stature, and skeletal abnormalities.

What causes Jacobsen syndrome?

What causes Jacobsen syndrome?

Jacobsen syndrome is caused by a deletion of genetic material at the end of the long arm of chromosome 11. In most cases, the deletion occurs randomly due to an error in cell division. In some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation.

How is Jacobsen syndrome diagnosed?

How is Jacobsen syndrome diagnosed?

Diagnosis is typically made by healthcare professionals based on a person's medical history, symptoms, physical exam, and laboratory test results. Genetic testing may also be used to confirm the diagnosis.

Is there a cure for Jacobsen syndrome?

Is there a cure for Jacobsen syndrome?

Currently, there is no cure for Jacobsen syndrome. Treatment focuses on managing the specific signs and symptoms present in each individual. It may involve the coordinated efforts of various specialists.

How is thrombocytopenia (low platelet counts) treated in individuals with Jacobsen syndrome?

How is thrombocytopenia (low platelet counts) treated in individuals with Jacobsen syndrome?

Regular monitoring is recommended, and blood or platelet transfusions may be necessary before or during surgeries.

Can congenital heart defects associated with Jacobsen syndrome be treated?

Can congenital heart defects associated with Jacobsen syndrome be treated?

Yes, complications of certain congenital heart defects can be treated with a variety of drugs. Surgery may also be needed to repair the malformations.

How are eye abnormalities treated in individuals with Jacobsen syndrome?

How are eye abnormalities treated in individuals with Jacobsen syndrome?

Eye abnormalities may be treated with surgery, glasses, contact lenses, and other measures to improve visual problems.

Can orthopedic issues associated with Jacobsen syndrome be treated?

Can orthopedic issues associated with Jacobsen syndrome be treated?

Abnormalities of the joints, tendons, muscles, and bones may be treated with orthopedic techniques, potentially in combination with surgery.

Can physical therapy help improve symptoms of Jacobsen syndrome?

Can physical therapy help improve symptoms of Jacobsen syndrome?

Yes, physical therapy may be recommended to help improve motor skills and overall physical development in individuals with Jacobsen syndrome.

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