Ear Without Helix

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

HOXA2, EFTUD2, FGFR2, TFAP2A, EYA1, POLR1C, CDT1, ORC6, FGFR3, SALL1, TCOF1, POLR1D, ORC1, ORC4, DHODH, CDC6, CHD7, SF3B4, SIX1, HMX1, EVC, BMP5, GSC, FRAS1, OTX2, TWSG1, KMT2D, LEMD3, KDM6A, GRIP1

HOXA2, EFTUD2, FGFR2, TFAP2A, EYA1, POLR1C, CDT1, ORC6, FGFR3, SALL1, TCOF1, POLR1D, ORC1, ORC4, DHODH, CDC6, CHD7, SF3B4, SIX1, HMX1, EVC, BMP5, GSC, FRAS1, OTX2, TWSG1, KMT2D, LEMD3, KDM6A, GRIP1, GNAI3, SIX5, FGF10, EIF4A3, EDNRA, WIF1, FREM2, FOXI3, NKX3-2, GDF6, PLCB4, FGF3, POMT2, GMNN, PAM16, AGA, INTU, B3GAT3, AUTS2, POC1A, POLR1A, ABHD5, ADNP, CNOT1, PIGN, PRDM16, NIN, LAS1L, CRPPA, RSPO2, KCTD1, ASXL1, AMER1, TWIST2, HS6ST2, TSR2, RSPRY1, FBXO11, DACT1, FAT4, FKRP, STAG2, KIF15, HDAC8, CENPJ, LMBRD1, MBD5, ASXL2, MAPRE2, LARGE1, POMT1, POLE, PIK3CA, PEX6, PBX1, PAK1, MSX2, KMT2A, MCM5, SMAD4, LETM1, HSPA9, HOXA13, HNRNPK, GLI3, GBA, GATA1, GABRD, FKTN, BPTF, DYRK1A, BMP2, ATRX, PLEC, PCNT, PSMD12, KCNAB2, ZMPSTE24, MED12, SEMA3E, TTC37, CHST3, COG1, RERE, DCHS1, TP63, RNU4ATAC, CDC45, WNT3, RPS28, TWIST1, NSD2, NELFA, SKI, PCGF2, RBM10, RPS19, HOXA1, CACNA1D, SIX2, PRKRA, MIR200C, MIR203A, MIR451A, MIR193B, ATR, EVC2

Drugs

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Clinical Features

MacCollum (1938) reported a large series but gave no genetic information.

Leung et al. (2007) reported a 4-generation Chinese family with isolated bilateral lop ear anomaly. The 6-month-old male proband had superior helical over-folding, absence of the superior (posterior) crus of the antihelix, decreased auricular vertical length, and reduction of the scapha bilaterally. His mother, maternal aunt, maternal grandmother, and maternal great-grandmother had similar abnormalities of both ears. None of the individuals reported hearing problems. Leung et al. (2007) concluded that the pedigree suggested autosomal dominant inheritance.

Hunter (2008) argued that the family reported by Leung et al. (2007) did not have lop ears but rather microtia with a strong cupping component. Hunter (2008) remarked that the vertical ear measurements given for 3 of the adults were all dramatically below the 3rd centile and that the upper ears were not folded over as seen in lop ears.

McLeod et al. (2008) agreed with the need for standard definitions of ear abnormalities, and stated that their family (Leung et al., 2007) could be considered to have type I microtia, lop ears, or type II constricted ears, depending on the classification terminology being used.