Jacobsen Syndrome

What is Jacobsen Syndrome?

Jacobsen syndrome affects chromosome 11 by deletion of several genes. These deletions can affect over three hundred forty different genes that are critical to normal development in the body. The deletion happens when the baby is in the womb and normal development doesn’t happen. It is a very rare problem. Jacobsen syndrome affects 1 in 100,000 people. Females are affected twice as often as males.

The signs and symptoms of Jacobsen syndrome differ from person to person. Most often people with this syndrome are seen to have a bleeding disorder called Paris-Trousseau syndrome, specific facial features, slowed development of speech/motor skills and cognitive impairment/learning problems. Some of the other symptoms include congenital heart problems, attention deficit hyperactivity disorder (ADHD), compulsive disorders, short height, feeding problems, recurrent chest/ear/sinus infections and skeletal abnormalities. Jacobsen syndrome also has been associated with and increases the chances of autism spectrum disorders. This syndrome can affect the kidneys, digestive system and genitals as well.

Is Jacobsen syndrome inherited? Yes, sometimes it can be inherited but most cases of Jacobsen syndrome is not passed down in families. It usually occurs randomly. Jacobsen syndrome is also known as 11q terminal deletion syndrome, 11q deletion disorder, 11q deletion syndrome, 11q23 deletion syndrome, JBS, Chromosome 11q deletion syndrome, Partial 11q monosomy syndrome and Jacobsen thrombocytopenia. ^{[1, 2, 3, 4]}

Causes

85 percent of the time the deletion of the genes is due to random error during formation of the egg/sperm. Sometimes it can also be due to error in early pregnancy when cells are dividing. 15 percent of the time Jacobsen syndrome is caused by the baby having a parent with a balanced translocation or other rare chromosome re-arrangements. ^[1]

Who discovered Jacobsen Syndrome?

A Danish physician named Petra Jacobsen first identified Jacobsen syndrome. ^[4]

Symptoms

• Born with abnormal CNS
• Paris-Trousseau syndrome (bleeding disorder in which blood clots poorly and thus causes bruising and bleeding)
• Delayed development of motor skills
• Delayed development of speech
• Cognitive Impairment
• Learning difficulties
• Compulsive behavior
• Short attention span
• Easily distracted
• Could be diagnosed with ADHD
• Small low set ears
• Wide set eyes
• Droopy eye lids
• Inner eyes have covering skin folds
• Broad nose and/or short nose
• Corners of the mouth are turned down
• Thin upper lip

• Small lower jaw
• Large head or small head
• Skull abnormality causing a pointy forehead
• Congenital heart defects
• Short height
• Difficulty feeding as a baby
• Recurrent ear/sinus infections
• Bone abnormalities
• Hypo-cellularity of bone marrow
• Platelet deficiency
• Eye brow hyperplasia/hypoplasia
• Constipation
• Absence of one or two testes
• Asymmetry of the face
• Fused digits on hands and/or feet
• Prominent protruding forehead and/or high forehead
• Long great toes or short toes

• Long space between nose and lips
• Flat footed or club footed
• Premature birth
• Short neck
• Crossed eyes
• Pancreas abnormalities
• Eye sight problems like cataracts
• Hearing problems
• Immune system problems
• Hormonal issues
• Receding chin
• Duodenal stenosis
• Anal abnormalities
• Eczema
• Abdominal hernia
• Mal-rotation of intestines
• Uterine abnormalities
• Kidney abnormalities
• Seizures
• Spina bifida
• Uro-genital fistula
• Webbed neck
• Failure to thrive

Diagnosis

It can be challenging to diagnose a rare disease or a genetic disease. A prenatal diagnosis can be made with cytogenetic analysis. Diagnosis for Jacobsen syndrome is often made at birth or early in childhood. The doctor will need to look at the physical examination, history, signs /symptoms, genetic testing and lab results. ^{[1, 2]}

Treatment

Treatment is based off symptomology. Treatment will need to be a holistic approach from many interdisciplinary team members. Pediatricians will help in childhood.

Pediatric cardiologists will need to be consulted if heart problems arise. People who show low platelets on their lab reports need to be watched carefully. There may be a need for blood transfusions (even before or after surgery). The malformations caused by this disease may warrant heart surgery. Drug therapy for heart problems may be initiated. Antibiotic therapy before surgery may be warranted to prevent infection to the heart.

Vigorous treatment for chest/ear/sinus infections is prudent. Neurologists can be consulted for any CNS abnormalities. Treatment for the eyes includes glasses, surgery and/or contact lenses. An ophthalmologist will decide the best course for the eyes. An orthopedic physician can treat any bone/tendon/joints/muscle abnormalities. Physical therapy and occupational therapy can help as well.

If any abdominal problems are present then an abdominal surgery may be needed to repair abnormalities. Any speech or language problems will need to be assessed by a Speech Language Pathologist. Genetic counseling is available. Sometimes palliative care is needed. Drug therapy may be needed as well. ^{[1, 2, 3]}

Life Expectancy

There is no cure for this syndrome. 20 percent of the time the baby dies within two years of birth. Heart problems most commonly cause these deaths. Other deaths are usually due to bleeding. The life expectancy for these people is not known. Some people with Jacobsen syndrome have lived into adult life. ^[2]

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What to read next?

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Reference List:

1. GARD Genetic and Rare Diseases Information Center, Available from: https://rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome

2. Health Line, Available from: http://www.healthline.com/health/jacobsen-syndrome

3. NIH US National Library of Medicine, Available from: https://ghr.nlm.nih.gov/condition/jacobsen-syndrome

4. Wikipedia, Available from: https://en.wikipedia.org/wiki/Jacobsen_syndrome

5. YouTube, Available from: https://www.youtube.com/watch?v=hg9s5XEGB5g

6. Ronald Macdonald House, Available from: https://rmhcofcentraloh.wordpress.com/2014/12/17/the-heartbeat-of-this-house/

7. Jacobsen Syndrome Project, Available from: http://i1os.com/Jacobsen_Syndrome_Biology_project/V9JYm69-1UU.video

8. Key Word Suggestions, Available from: http://www.keyword-suggestions.com/Y2hyb21vc29tYWwgbXV0YXRpb25zIGRlbGV0aW9u/

9. Webnode, Available from: http://www.webnode.me/jacobsen-syndrome-adults.html