Coffin-Siris Syndrome

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ARID1B, ARID1A, SMARCE1, SOX11, SMARCB1, SMARCA4, SMARCA1, SMARCA2, DPF2, ARID2, PHF6, SOX4, SMARCC2, BANF1, WG, SDHD, IL10, SDHB, SDHC, CMAS, IL17RB, CCL26, FAM3C, SDS, NIPBL, PTPN22, SMARCAL1, WNT16, PGR, TNFRSF10C, MYDGF, CD14, IL25, CPED1, ATR, ATM, SARDH, TNF, TNFSF10, EDN1, PRTN3, MPO, SET, MMP9, MMP2, ITGB2, IL5, FASLG, SORD, HLA-DRB4, HLA-DRB1, TRBV20OR9-2, TGFB1, TGFB2, PREP, FAS

Drugs

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Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.