Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the T-box transcription factor TBX5.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00433 Holt-Oram syndrome
