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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.
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. Syndromes affecting primarily the heart are written in bold letters. [1] [2]
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]
Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, [2] a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the ...
Hypoplastic left heart syndrome; Hypoplastic right heart syndrome; Hypotonia; Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome; Hypotrichosis–lymphedema–telangiectasia syndrome; Hystrix-like ichthyosis–deafness syndrome
Heart-hand syndrome, Slovenian type; Other names: Slovenian type heart-hand syndrome: Images showing the characteristic small hands associated with this condition next to normal hands (lower left), mutation in the LMNA gene involved in the condition (lower right), pedigree of a family with Heart-hand syndrome, Slovenian type showing autosomal dominant inheritance (entire upper portion of image).