Holt-Oram syndrome [Supplementary Concept]

A genetic condition with autosomal dominant inheritance that is characterized by skeletal abnormalities of the upper limbs, particularly thumb and wrist anomalies; additional skeletal abnormalities may also be present. About 75% of those affected have heart abnormalities, notably ATRIAL SEPTAL DEFECTS and cardiac conduction defects. Mutations in the TBX5 gene have been identified. OMIM: 142900

Date introduced: August 25, 2010

MeSH Unique ID: C535326

Heading Mapped to:

• Abnormalities, Multiple
• Heart Defects, Congenital
• Heart Septal Defects, Atrial
• Lower Extremity Deformities, Congenital
• Upper Extremity Deformities, Congenital

Entry Terms:

• Heart-hand syndrome
• Atriodigital dysplasia
• Atrio-Digital Syndrome
• Cardiac-Limb Syndrome
• Heart-Hand Syndrome, Type 1
• Ventriculo-Radial Syndrome
• Wildervanck syndrome
• Cervico-Oculo-Acoustic Syndrome