Telecanthus

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ACTB, ZMPSTE24, ANKRD11, KIFBP, CNTNAP2, C2CD3, KAT6B, SPECC1L, DDHD2, ANKLE2, KDM6B, B4GALT7, TLK2, SRCAP, EBP, COLEC10, AKT3, IFT52, MAFB, SEC24C, CRIPT, NRXN1, EFTUD2, PTCH2, CDK10, OFD1, SMC1A, USP9X, ZNF148, XRCC4, UFD1, HIRA, DSE, SUFU, ACTG1, UBA5, KCTD1, STAC3, JMJD1C, TAPT1, ADAMTS18, TWIST2, GPRASP2, C12orf57, CHST14, ADAT3, CCNQ, UBE3B, DOCK7, TRAF7, ALG9, RAB23, TBL1XR1, COLEC11, VPS33A, ALX4, ZSWIM6, WDR35, HECW2, ANKH, HDAC8, IFT122, HHAT, ASXL2, RNF125, NSUN2, TFAP2A, TBX1, MAP3K7, EFNB1, FUCA1, FLNB, FLNA, FOXC1, FGFR2, FGFR3, FGFR1, FGF10, FBN1, BPTF, ETFDH, ETFB, ETFA, ERF, EDNRB, SOX10, EDN3, SLC26A2, COMT, COL11A1, COL5A2, COL3A1, CHRNG, CDH11, CCND2, FOXL2, ATRX, ATP6V1B2, ARVCF, ARL3, GJA1, GJB2, GLI3, GP1BB, SNAI2, SKI, RREB1, RPS6KA3, RAF1, PTH1R, PTCH1, MASP1, MAP2K2, PITX2, PIK3R2, PIK3R1, PAX3, NRAS, NOTCH2, NEK1, MYH3, MUSK, KMT2A, MITF, MID1, KITLG, LMNA, LIG4, KRAS, KCNH1, HRAS, HNRNPU, H1-4, NPHP3-ACAD11

Drugs

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Pryor (1969) gave normal values for various interpupillary measurements. Juberg and Hirsch (1971) described primary telecanthus, increased separation of the medial canthi without abnormal separation of the orbits, in 5 females and 3 males of 5 generations. There was no instance of male-to-male transmission. The phenotype is that displayed by Jacqueline Kennedy Onassis. One instance of nonpenetrance was observed. Bilateral cleft lip and cleft palate occurred in some. Mental retardation and dental agenesis may be occasional manifestations of the gene.