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Holt oram Syndrome Pictures

What is Holt-Oram Syndrome ?

Holt-Oram syndrome is an inherited disorder and is characterized by abnormalities in the bones of the upper limbs, i.e. the arms and the hands, as well as defects of the heart. This condition was first detected and described by Holt and Oram after an empirical study of a family across four generations that had thumb-bone abnormalities and atrial septal defects.


Holt-Oram Syndrome Symptoms

Some of the symptoms of Holt-Oram syndrome are as follows:

  • Upper limbs have abnormally developed bones. Affected individuals will develop at least one abnormality in the wrist bones or the carpal bones
  • Additional abnormalities of the bones in individuals with Holt-Oram syndrome such as an elongated thumb that may look like a finger, a missing thumb, the upper arm may have an underdeveloped bone, the forearm may lack bones partially or completely and the shoulder blades or the collar bone may have abnormalities.
  • Either one of the upper limbs or both may be affected by abnormalities of the skeleton. In case both the limbs have skeletal abnormalities, then the bone defects may be similar or different on each side of the body.
  • If the skeletal abnormalities are similar on both the sides, than the right side of the body is less severely affected as compared to the left side.
  • A majority of the population affected by Holt-Oram syndrome tend to develop fatal heart defects.
  • The heart is divided into two sections by a wall called the septum. In addition, the heart is also divided into the upper chambers called atria and the lower chambers called ventricles. A hole in the septum either in the atria or the ventricles may be present in individuals with Holt-Oram syndrome.
  • Holt-Oram syndrome may also cause defects in cardiac conduction which may lead to uncoordinated or rapid contractions of the heart muscles or heartbeats that is slower than normal.

Holt-Oram Syndrome Causes

Mutations of the TBX5 gene result in the development of Holt-Oram syndrome.
The syndrome is inherited as a completely penetrant and autosomal dominant trait. Hence, Holt-Oram syndrome runs in families though the rate of incidence in the general population is low.

Holt-Oram Syndrome Treatment

Surgical intervention is required to correct the defects of the limbs and abnormalities in the heart
A permanent peacemaker may be required by patients who have severe heart blockage.

Holt oram Syndrome Pictures

Holt oram syndrome pictures

Picture 1 : abnormality in the hand (Holt oram Syndrome)

Image source: © scielo.br

 

Holt oram syndrome

Picture 2 : Holt oram Syndrome Photo

Image source: © scielo.br

 

Holt oram syndrome pedigree diagram

Picture 3 : Holt oram Syndrome

Image source: © scielo.br

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