Understanding Jacobsen Syndrome

Discovered by the Danish doctor Petra Jacobsen, Jacobsen Syndrome is a very rare chromosomal disorder, this type of syndrome occurs because a part of chromosome 11 is absent in the child's development (there are 23 pairs of chromosomes and the human body needs them all the 23 pairs for good development), is a hereditary disorder. It affects women more, but so far less than 100 cases have been recorded.

Signs and symptoms may vary depending on the patient, and include:

– heart defects;
– Mental retardation;
– Attention deficit;
– Hyperactivity;
– Feeding difficulties in childhood;
- Short;
– Thrombocytopenia;
- Retrognathism;
– Dysplasia;
– Dobra epicantica;
– Abnormal toes;
– Eye problems.

In addition to these symptoms, some kidney, digestive and genital disorders may be presented by patients.

Most affected people had delayed development of motor and speech skills, cognitive impairment and learning difficulties.

Many people with Jacobsen Syndrome are often diagnosed with attention deficit hyperactivity disorder (ADHD), and in some cases the syndrome is confused with autism.

Early intervention is essential to ensure that children with the syndrome reach their full potential.

But what about the risks?

The main risks are associated with complications due to congenital heart disease and less frequently due to hemorrhage. About 20% of children die during the first two years of life as a result of these risks.

There is no cure, treatment is only to reduce the problems it causes.

Dear readers, we inform you that comments made on Marianna Gomes' articles cannot be answered. Our dear columnist left this earth plane in June 2018, and is now illuminating other spheres. We are very grateful for her interest, and also to her for having contributed beautifully to this project.

Immense gratitude.