Jacobsen Syndrome synonyms

Jacobsen Syndrome, also known as 11q deletion disorder or 11q terminal deletion disorder, is a rare genetic condition caused by the deletion of a portion of chromosome 11. This syndrome was first described by Danish pediatrician Petra Jacobsen in 1973.

Individuals with Jacobsen Syndrome typically exhibit a range of physical, developmental, and intellectual challenges. Some of the common features associated with this condition include distinct facial characteristics such as a small head, low-set ears, wide-set eyes, a broad nasal bridge, and a small jaw. They may also have heart defects, short stature, delayed development, and intellectual disabilities.

Cardiac abnormalities are often present in individuals with Jacobsen Syndrome, with ventricular septal defects being the most common. Other heart conditions that may occur include atrial septal defects, patent ductus arteriosus, and coarctation of the aorta. These heart defects can vary in severity and may require medical intervention.

Children with Jacobsen Syndrome may experience developmental delays in areas such as speech and motor skills. They may have low muscle tone (hypotonia) and exhibit delayed or absent speech. Intellectual disabilities can range from mild to severe, and individuals may require special education and supportive therapies to reach their full potential.

Other potential features of Jacobsen Syndrome include feeding difficulties in infancy, behavioral problems such as attention deficit hyperactivity disorder (ADHD), immune system abnormalities, and increased susceptibility to infections. It is important for individuals with Jacobsen Syndrome to receive comprehensive medical care to address their specific needs.

Although there is no cure for Jacobsen Syndrome, early intervention and supportive therapies can greatly improve the quality of life for affected individuals. Regular medical monitoring is essential to manage any associated health issues and provide appropriate interventions.