Miller-Dieker Syndrome

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Retrieved

2021-01-23

Source

Orphanet

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Genes

PAFAH1B1, YWHAE, HIC1, MNT, FANCB, DCX, FANCF, FANCD2, UBE2T, SBDS, PALB2, ERCC4, CTC1, FANCA, FANCC, FANCM, BRIP1, MAD2L2, BLM, SLX4, FANCE, FANCL, FANCG, XRCC2, RAD51, RAD51C, BRCA2, BRCA1, FANCI, DPH1, TP53, SGCE, RUNX1, EPO, FLT3, SF3B1, CD34, KMT2A, BCR, RPS14, RN7SL263P, MECP2, JAK2, CSF3, BCL2L10, PLCB1, DDX41, GFI1, NPM1, U2AF1, PIGA, DAPK1, ASXL1, CDKN1C, CCR7, CDKN2B, DERL1, LINC01194, MECOM, CSF2, IKBKG, CCL28, MSC, CDR3, ABCG2, ESPL1, SGCZ, PDIK1L, YY1, CTAG1A, COL6A4P1, MIR21, WT1, WNT1, UBE3A, PSC, U2AF1L5, H3P9, TLR2, TK2, THBS1, STUB1, MRPL28, CIB1, ATG7, QRSL1, SYT1, LSM2, TET2, PRDM16, PLCE1, GORASP1, NXT1, WNK1, DLL1, DNAI1, INTS1, SETBP1, PIGN, PRAME, BAALC, TBC1D9, PARK7, CHEK2, NDEL1, SUB1, SEPTIN9, SLC12A9, TCF4, ABL1, STAT3, HLTF, DCK, TOR1A, EZH2, FGF1, FLT1, GATA2, GEM, GSTM1, GSTT1, GZMB, HFE, HIF1A, HOXD13, HRAS, HSPA9, CYP2B6, CUX1, CTNNB1, CD14, APAF1, ATM, CCND1, BCL2, CAMP, CBL, CD33, CTAG1B, CD38, CDKN1A, CDKN1B, CDKN2A, CD52, CRK, HTC2, IL2, IL2RA, PTEN, ABCB1, ABR, PLCG1, PLK1, MAPK8, PSMB6, RAP1GAP, NRAS, RARA, RELA, ROBO2, SCN4A, SCT, SRSF2, NUP98, NCAM1, CXCL8, MCL1, CXCR2, IRF1, ISG20, ITGB4, KIR3DL1, KRAS, MLF1, NBN, MMP1, MMP9, CD200, MPV17, MT1E, MVD, H3P10

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Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

Epidemiology

MDS is undoubtedly a rare condition with a reported estimate of 1 cases per 100 000 live births, although incidence and prevalence are probably higher.

Clinical description

Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria.

Etiology

Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

Management and treatment

Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important.