Omphalocele, X-Linked

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CHRNA7, PCSK5, LRP1, CDKN1C, FLNA, IGF2, KCNQ1OT1, PIGN, MKS1, RAB23, MBTPS2, DACT1, IFT81, LMOD1, ACTG2, GRIP1, WDR60, SPECC1L, CD96, SEMA3E, TP63, YWHAE, ADNP, CHD7, THRA, TTC7A, BHLHA9, FREM2, H19, HYLS1, FREM1, CEP120, TWIST2, NEK9, WDR34, FRAS1, DYNC2H1, PORCN, NXN, IFT80, WDR35, TSHB, H19-ICR, ISL1, HOXD13, KCNQ1, LBR, LRP2, MMP2, GPC3, MMP14, GJB2, MYH11, MYLK, NFIX, PAFAH1B1, FLNB, FGFR1, PLOD1, GPC4, COL11A2, MASP1, COL11A1, CHUK, HIC1, TCN2, AFP, MTHFR, EYA2, IH, BHMT, SLC19A1, CCL21, MAPK1, EPHB2, EYA1, WDR20, GYPE, GDF11, PITX2, SDS, CD320, GYPA, GYPB, TGM1

Drugs

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Clinical Features

An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010).

Also see 164750 for an autosomal form.

Inheritance

Havalad et al. (1979) described a family with 4 affected males in a pedigree pattern suggestive of X-linked inheritance. Two maternal half brothers and 2 grandsons of 1 of them, through a daughter, were affected.