Heart-Hand Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TBX5, SALL4, SMOC1, TGFB2, TBX1, BMP4, KLF13, RASSF1, TRIM66, VDR, TPR, TFAP2B, TBX3, TAZ, BCL2, RAC1, PPARG, SERPINA1, PECAM1, PCNA, NFE2L2, MET, LMNA, GJA5, ERG, ATN1, NKX2-5, SRSF2

Drugs

p38 mitogen-activated kinase inhibitor (p38 MAPK)

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Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).