Holt-Oram Syndrome - Cleveland Clinic
What is Holt-Oram syndrome? Holt-Oram syndrome is a rare, congenital (present at birth) disorder. It often involves abnormal bones in your hands, wrists and arms, as well as heart problems.
Holt-Oram syndrome | About the Disease | GARD - Genetic and …
Holt-Oram syndrome is caused by genetic changes (pathogenic variantss) in the TBX5 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome.
Holt-Oram syndrome - MedlinePlus
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs.
Holt Oram Syndrome - Symptoms, Causes, Treatment | NORD
2020年5月7日 · Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with a change (mutation) in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.
Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf
2004年7月20日 · Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range …
Holt-Oram Syndrome - StatPearls - NCBI Bookshelf
2023年8月14日 · Holt-Oram syndrome also referred to as the heart-hand syndrome, is an autosomal dominant disorder that is distinguished by upper limb abnormalities in association with congenital heart lesions. First described in 1960 by Holt and Oram, the syndrome was identified when thumb anomalies and atrial septal defects (ASD) were observed in family ...
Holt-Oram Syndrome - PubMed
2019年5月23日 · Clinical characteristics: Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia.
Holt-Oram综合征（小儿手-心畸形综合征） - 心血管 - 天山医学院
英文：Holt-Oram syndrome, HOS; 同义名：心-手综合征、小儿手-心畸形综合征、心房-指综合征、心肢综合征、心房-手指发育不良、上肢血管综合征、家族性心脏上肢异常综合征、遗传性心血管-上肢畸形综合征。
Holt-Oram Syndrome - PubMed
2023年8月14日 · Holt-Oram syndrome also referred to as the heart-hand syndrome, is an autosomal dominant disorder that is characterized by upper limb abnormalities in association with congenital heart lesions. First described in 1960 by Holt and Oram, the syndrome was identified when thumb anomalies and atrial sept …
Holt-Oram Syndrome: Background, Pathophysiology, Etiology - Medscape
2022年10月14日 · Holt-Oram syndrome, also called heart-hand syndrome, is an inherited disorder characterized by abnormalities of the upper limbs and heart. Holt and Oram first described this condition in...