Seckel Syndrome

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ATR, CENPJ, PCNT, ATRIP, TRAIP, CENPE, PLK4, CEP152, DNA2, LIG4, WDR4, RBBP8, ORC1, ORC4, IGF1, XRCC4, ORC6, DNMT3A, GMNN, CENPF, CDC6, CDT1, LZTR1, KRAS, PTPN11, RAF1, CEP63, SOS1, RIT1, RTTN

ATR, CENPJ, PCNT, ATRIP, TRAIP, CENPE, PLK4, CEP152, DNA2, LIG4, WDR4, RBBP8, ORC1, ORC4, IGF1, XRCC4, ORC6, DNMT3A, GMNN, CENPF, CDC6, CDT1, LZTR1, KRAS, PTPN11, RAF1, CEP63, SOS1, RIT1, RTTN, NIN, ATM, AIMP2, GRAP2, BRCA1, CD5L, CD69, MCPH1, CHEK1, LARP7, CRK, MAPK14, DONSON, POLDIP2, DNMT1, RNF19A, FANCA, FANCC, PNKP, FAH, H2AX, AHSA1, MAPK1, TELO2, CEP135, TUBGCP6

Drugs

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Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. About less than 25% of the patients also have blood abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). Treatment is supportive.