Holt–Oram syndrome

Autosomal dominant - en

Holt–Oram syndrome is a rare genetic disorder that affects the bones of the arms and hands (the upper limbs) and may also cause heart problems. It is also known as "heart-hand syndrome" due to the combination of limb and cardiac defects.

Presentation

Individuals with Holt–Oram syndrome typically have abnormalities in the bones of the upper limbs, which can range from minor to severe. These abnormalities may include:

• Shortened or missing bones in the arms or hands
• Abnormalities in the thumb, such as a missing thumb or a thumb that looks like a finger
• Limited movement or function of the upper limbs

In addition to limb abnormalities, individuals with Holt–Oram syndrome often have congenital heart defects. These can include:

• Atrial septal defect (ASD)
• Ventricular septal defect (VSD)
• Patent ductus arteriosus (PDA)
• Cardiac conduction disease

Genetics

Holt–Oram syndrome is caused by mutations in the TBX5 gene, which is located on chromosome 12. The TBX5 gene provides instructions for making a protein that is involved in the development of the heart and upper limbs. The syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Holt–Oram syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays, echocardiograms, and MRIs may be used to assess the extent of limb and heart abnormalities.

Management

Management of Holt–Oram syndrome involves a multidisciplinary approach, including:

• Orthopedic care for limb abnormalities
• Cardiac care for heart defects
• Genetic counseling for affected individuals and their families

Epidemiology

Holt–Oram syndrome is a rare condition, with an estimated prevalence of 1 in 100,000 live births. It affects males and females equally.

History

Holt–Oram syndrome was first described in 1960 by Mary Holt and Samuel Oram, who identified the association between upper limb abnormalities and congenital heart defects.

See also

• Congenital heart defect
• Genetic disorder
• Orthopedic surgery
• Cardiology

External links

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