Shprintzen-Goldberg Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

SKI, FBN1, TBX1, DGCR, KIFBP, HIRA, COMT, CHD7, DGCR6, DGCR8, DGS2, DGCR2, CDC45, ZNF74, SLC25A1, TGFBR2, PRODH, TBX5, UFD1, HTC2, CRKL, DGCR5, FOXN1, SCZD12, MIR185, MIR132, NKX2-6, CPO, PRDM9, NAAA

SKI, FBN1, TBX1, DGCR, KIFBP, HIRA, COMT, CHD7, DGCR6, DGCR8, DGS2, DGCR2, CDC45, ZNF74, SLC25A1, TGFBR2, PRODH, TBX5, UFD1, HTC2, CRKL, DGCR5, FOXN1, SCZD12, MIR185, MIR132, NKX2-6, CPO, PRDM9, NAAA, APOL1, GNB1L, CELF2, SETBP1, CECR2, TCL6, ARSA, ZAP70, TGFBR1, CD27, CHRNA7, MAP3K8, CTNNB1, EDN1, ELN, EYA1, GATA3, IL2, LAMC1, SMAD2, SMAD4, MMP9, SEPTIN5, RAC2, RANBP1, RPS6KB2, SLC7A4, SULT1E1, BMP4, TBX3, CECR7

Drugs

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Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.