Holt-Orama Syndrome

Holt-Oram syndrome: symptoms, diagnosis and treatment

Holt-Oram syndrome, also known as Holt-Oram syndrome, is a rare congenital disorder characterized by upper limb bone abnormalities and cardiovascular involvement. This is neurocraniodiaphyseal dysplasia, which affects the development of the bones of the shoulder girdle and arms. The syndrome was first described by doctors Marian Holt and Samuel Oram in 1960.

The main signs of Holt-Oram syndrome are deformities of the bones of the upper extremities, especially the bones of the shoulder girdle and the intermediate bones of the arms. Patients may have abnormalities of the shoulder joints, short shoulders, absent or underdeveloped fingers, and deformities of the collarbones and shoulder blades. In addition, most patients with Holt-Oram syndrome also have heart defects such as atrioventricular block or ventricular septal regurgitation.

Diagnosis of Holt-Oram syndrome is usually based on clinical manifestations and examination of the patient. It is important to perform a detailed physical examination, including assessment of the skeletal structure of the upper extremities and the cardiovascular system. Additional tests, such as radiography and echocardiography, can be used to confirm the diagnosis and assess the extent of the lesion.

Treatment for Holt-Oram syndrome is aimed at improving patients' quality of life and managing symptoms. It usually includes orthopedic care to correct limb deformities, physical therapy to strengthen muscles and improve mobility, and surgery when necessary. Patients with heart defects may require cardiac treatment such as pacemaker implantation or surgery to correct abnormalities.

Holt-Oram syndrome is a hereditary disease and is transmitted in an autosomal dominant manner. Genetic counseling may be helpful for families with a history of this syndrome to assess the risk of inheritance and provide information about prenatal testing options.

In conclusion, Holt-Oram syndrome is a rare congenital disorder that affects the bones of the upper limbs and the cardiovascular system. Signs of the syndrome include deformities of the shoulder girdle, arms, and heart defects. Diagnosis is based on clinical manifestations and additional research methods, and treatment is aimed at improving the quality of life of patients and managing symptoms. Genetic counseling also plays an important role in providing information about heredity and prenatal testing options to families affected by Holt-Oram syndrome.

Holt-Orman syndrome is a rare genetic disorder that appears in children after birth. It is associated with genetic mutations that occur in genes responsible for the development and functioning of the heart. Many patients with this syndrome can experience serious health problems, including cardiac arrest and death.

**Why is Holt-ORMA syndrome so rare?**

This syndrome is very rare and generally occurs in one case in one million births. It is believed to be a genetic disorder associated with certain mutations in genes. Scientists do not yet know which specific genes are responsible for the development of this disease. However, research suggests that it may be associated with abnormalities in the SOX18 gene, which is responsible for proper heart development. In addition, patients with this gene often have abnormalities in other genes of the blood coagulation system.

Symptoms of Holt-Orman syndrome. The earliest symptom that is often seen in children with Holt Orman syndrome is the presence of an extra chord (extra septum) in the heart. This is because the SOX17 gene, which is associated with proper heart development, has an additional DNA change. Doctors may notice this extra chord on echocardiography.