Holt-Oram syndrome

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Holt-Oram syndrome

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Holt-Oram syndrome also called as

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[A] Williams syndrome
[B] Noonan syndrome
[C] Heart-hand syndrome
[D] Shone’s Syndrome

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Holt-Oram syndrome

1. Congenital heart malformations are present in 75% of individuals with Holt-Oram syndrome
2. Most commonly – ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD).
3. Autosomal dominant disorder
4. Characterized by upper limb abnormalities in association with congenital heart lesions
5. Heterozygous mutation in the TBX5 gene on chromosome 12q24.1 causes Holt-Oram syndrome
6. Upper-limb malformations can involve – carpal bones, thenar bones, and radial bones.
7. Abnormalities may be unilateral or bilateral and symmetric or asymmetric.
8. Most cases are unilateral and affect the left side.
9. Thumb may be completely absent, grossly underdeveloped, or triphalangeal.

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