Russell-Silver Syndrome, X-Linked

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

IGF2, H19, HMGA2, CDKN1C, PLAG1, IGFBP3, CSH1, IGFBP1, FOXP2, GH2, RIT1, RAF1, PTPN11, ATR, LZTR1, KRAS, SOS1, CEP63, CENPJ, UROD, GRB10, BSCL2, H19-ICR, INS-IGF2, RSS, SMS, TGM1, MEST, WDR20, IGF1

IGF2, H19, HMGA2, CDKN1C, PLAG1, IGFBP3, CSH1, IGFBP1, FOXP2, GH2, RIT1, RAF1, PTPN11, ATR, LZTR1, KRAS, SOS1, CEP63, CENPJ, UROD, GRB10, BSCL2, H19-ICR, INS-IGF2, RSS, SMS, TGM1, MEST, WDR20, IGF1, IGF1R, GH1, KCNQ1OT1, WASHC5, KCNQ1, PLAGL1, CTCF, PCNA, ZFP57, TSPO, EGFR, CPA4, SPG38, SGCE, IGF2-AS, ZACN, MBD3, COPG2IT1, PHLDA2, HSP90B2P, TLR3, AIFM1, MAD2L1BP, COPG2, PEG10, MEG3, NSD1, CTCFL, OBSL1, HSPB8, OSBPL5, KCNIP1, CCDC22, KIF1B, AIF1, SRF, FGFR3, GHR, GFAP, GDNF, GCSH, GART, GARS1, FOLR1, EGF, GNAS, RCAN1, DES, DDC, COL1A1, CHRM3, BAAT, ANXA1, GLDC, GPI, SPAST, PGR, RASGRF1, PTCH1, AMT, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PDGFRB, NR3C1, NFE2L2, NEUROD1, KPNA2, KCNE1, HSPB1, HOXA4, HIC1, LOC105274310

Drugs

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The possibility of an X-linked form was raised by Partington (1985) on the basis of the following observations: 2 brothers, aged 7 and 4, had prenatal growth retardation, triangular facies and cafe-au-lait (CAL) spots. Both had asthma. The mother was 160 cm tall and had CAL spots. Her 4 brothers were tall with no spots. Of her 5 sisters, 3 were over 168 cm tall and had no spots; 2 were 156 cm tall and had CAL spots. Partington (1985) suggested that this may represent X-linked inheritance with severe expression in males and mild expression in females. In the full report with illustrations (Partington, 1986), the pigmentary anomaly was presented as quite different from cafe-au-lait spots. The changes were progressive, starting at age 1 year in the younger child. Both pigmented and achromatic areas developed on the trunk and limbs sparing the face.