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Holt-Oram Syndrome is an autosomal dominant genetic disorder that affects the bones of the upper limbs. The symptoms of Holt-Oram Syndrome vary in individuals and families. Common symptoms are:
• Abnormalities in limbs – mostly in wrist
• Long thumbs
• Inability to extend arms fully or rotate arms outwards
• Shortened arms
• Congenital heart malfunction
HOW IS HOLT-ORAM SYNDROME DIAGNOSED?
Diagnosis of Holt-Oram Syndrome is based on the symptoms and a complete physical examination by an orthopedician. An X-ray of the limbs may help detect malformations. The condition of the heart may be diagnosed through an echocardiogram, MRI or other imaging studies.
HOW IS HOLT-ORAM SYNDROME TREATED?
There is no cure for Holt-Oram Syndrome, only symptomatic relief is possible. Treatment may require a team of specialists working on various malformations. For heart defects due to Holt-Oram Syndrome, surgical treatment may be provided. Reconstructive surgery may be done for correcting limb related abnormalities.
DID YOU KNOW?
The patient with this condition has to have annual checkups to be sure that the heart is functioning normally.