What is Holt Oram Syndrome ?
Holt Oram syndrome is a kind of genetic disorder in which the person suffers from abnormal upper limbs and heart problems. The abnormalities this syndrome brings are quite varied, ranging from minor anomalies that are only evident through X-ray to major ones characterized by missing bones of the forearms. Individuals with this disorder may have elongated thumbs that resemble a finger, while others don’t have thumbs at all. The skeletal abnormalities could affect either one or both sides of the body. The patient may also suffer from some form of cardiac problem.
Holt Oram syndrome rarely occurs, affecting only about 1 out of 100,000 individuals. It was Mary Holt and Samuel Oram who first identified this disorder in 1960.
Gene responsible for Holt Oram syndrome
Holt Oram syndrome occurs as a result of the mutations of TBX5 gene, which is essential for the upper limbs and heart development before birth. The gene is involved in the process called cardiac septation, wherein the developing heart is divided into chambers. TBX5 is also concerned in the regulation of bone development of the arms and hands. Transmutations in TBX5 gene interrupt the proper development of the upper limbs and heart, resulting to what is known as heart-hand syndrome or Holt Oram syndrome.
Screening for Holt Oram syndrome
The syndrome is evident at birth and is screened through molecular genetic testing or DNA-based testing. The screening aims to figure out the TBX5 transmutation. Due to its autosomal dominant pattern, a single copy of the defective gene is enough to instigate Holt Oram syndrome. It was also noted that the syndrome will arise despite the absence of the disorder among family members, as it could be a result of new mutations.
The diagnosis is primarily based on the arm and hand abnormalities. When these are subtle at birth, diagnosis is only made when cardiac problems have become apparent. The patient will undergo X-rays and electrocardiogram to detect bone and heart problems.
Cure for Holt Oram syndrome
Cure is not yet available for Holt Oram syndrome sufferers, so its treatment is aimed on alleviating the symptoms to improve the patient’s quality of life. The patient will be working closely with cardiologists for heart problems, as well as orthopedic surgeons for skeletal problems.
Holt Oram Syndrome pictures