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Holt-Oram syndrome

What are the symptoms?

Heart defects
Most commonly this is an Atrial Septal Defect (ASD) or Ventricular Septal Defect (VSD) but other congenital heart defects can occur. Conduction disturbances are often seen on electrocardiography (ECG) and may be the only sign of the condition.

Upper limb
Abnormalities affect both arms but not necessarily in the same way. The thumb is usually abnormal (triphalangeal, like a finger), absent or underdeveloped. The forearms may be short or absent. The shoulders are usually narrow and sloping. The mildest abnormalities are abnormal bending of the fifth finger and limited rotation of the joints of the forearms which allow palm of hands to face up. The most severe involve absence of all or part of the upper limb.

The lower limbs are not involved and no other abnormalities are seen in the Holt-Oram syndrome.

View Background Background  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written May 1995 by Dr R Newbury-Ecob. Last updated December 2005 by Dr R Newbury-Ecob, Consultant in Clinical Genetics, Clinical Genetics Service, St Michael's Hospital, Bristol, UK.

 

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