Ear Malformation

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CHD7, EYA1, KCNQ1, SALL1, SIX1, DACT1, PEX5, PEX16, TP63, PEX11B, ZNHIT3, PIGL, ADAMTS3, SEMA3E, MAFB, DGCR2, MAD2L2, PEX3, NAA10, RAI1, ESS2, DGCR6, PXDN, XRCC2, TWIST1, TNNI2, TCF3, TBCE, TBX1, ABCC8, SNAI2, RAD51C, RAD51, POMT1, POGZ, MAPRE2, FANCM, TUBB, ASXL1, ESCO2, CEP120, SIX5, CCBE1, COL25A1, SLX4, BRIP1, FRAS1, PALB2, FAT4, NOD2, ARID1B, PEX2, LRRC8A, PEX26, FANCI, RFWD3, FANCL, BCOR, DGCR8, VSX1, BLNK, UBE2T, SIN3A, GRIP1, ADNP, ANK1, FREM2, PEX19, FANCC, NECTIN1, GCK, GATA4, FGFR2, FGFR3, FGD1, FANCG, FANCF, FANCB, FANCE, FANCD2, FANCA, HGD, ERF, ERCC6, ERCC4, EDN1, CTH, CHN1, CD79B, CD79A, BRCA2, BRCA1, KIF1A, GNAI3, GJA1, PEX14, SLC26A4, MMP2, PEX1, KIT, PEX6, KCNJ11, PLG, PEX10, PDX1, INS, IGLL1, PLCB4, IGHM, PEX12, PEX13, PIK3R1, PRRX1, POU3F4, PTGDS, GJB2, FGF3, KCNJ10, MPZL2, CSF2, ARSD, HMX3, CDKN1C, TCHP, HOXA2, TP53, GREB1L, CTNNB1, DYRK1A, TFAP2A, HMX2, MYO7A, LAMC2, FLI1, HOXB1, HMX1, ABR

Drugs

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Potter (1937) described a bilateral congenital malformation of the pinna which is curled up like a cap or cup concealing the external auditory meatus when the subject is in lateral profile. Erich and Abu-Jamra (1965) observed transmission of the condition through 4 generations (in 17 cases in 8 sibships) and reviewed similar reports. Peterson and Schimke (1968) observed cup-shaped ears in members of 5 generations with at least 4 instances of male-to-male transmission. Their proband had Pierre Robin syndrome (261800). The embryology of the auricle and a large amount of clinical material on various anomalies of the auricle were presented by Rogers (1968).