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Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1]
[5] [6] [7] Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems. This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the ...
Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities. [1] [2] [3] [4]As of July 2013, known heart-hand syndromes include Holt–Oram syndrome, Berk–Tabatznik syndrome, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome, heart hand syndrome, Slovenian type and Heart-hand syndrome, Spanish type.
In humans, and some other animals, defects in the TBX5 gene expression are responsible for Holt–Oram syndrome, which is characterized by at least one abnormal wrist bone. Other arm bones are almost always affected, though the severity can vary widely, from complete absence of a bone, to only a reduction in bone length.
Duane-radial ray syndrome, also known as Okihiro syndrome, [1] is a rare autosomal dominant disorder that primarily affects the eyes (Duane anomaly) and causes abnormalities of bones in the arms and hands (radial ray malformations).
Mutations of all these proteins are associated with both atrial and ventricular septal defects; In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt–Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb.
In GeneReviews; Huijun Yuan; Xue Z Liu (4 August 2011). "DFNX1 Nonsyndromic Hearing Loss and Deafness – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". DFNX1 Nonsyndromic Hearing Loss and Deafness. University of Washington, Seattle. PMID 21834172. NBK57098. In GeneReviews; Smith, Richard JH; Gurrola, II, Jose G; Kelley, Philip M (14 June 2011).
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.