Syndromes Associated With Omphalocele

M ə n. Omphalocele also known as exomphalos is a birth defect of the abdominal belly wall.

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Beckwith wiedemann syndrome chih ping chen departments of obstetrics and gynecology and medical research mackay memorial hospital taipei department of biotechnology and bioinformatics asia university and college of chinese medicine china medical university taichung taiwan.

Syndromes associated with omphalocele. Otopalatodigital syndrome type ii. Otopalatodigital syndrome type ii. Beckwith wiedemann syndrome is also associated with omphaloceles.

The infant s intestines liver or other organs stick outside of the belly through the belly button. Syndromes and disorders associated with omphalocele iii. A minority 15 cases of bws are familial meaning that a close relative may also have bws and parents of an affected child may be at increased risk of.

Omphalocele can be associated with several syndromes. Beckwith wiedemann syndrome bws omim 130650 is characterized by macrosomia macroglossia visceromegaly hemihypertrophy abdominal wall defects ear creases pits neonatal hypoglycemia. Beckwith wiedemann syndrome ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə.

Omphalocele can be associated with single gene disorders neural tube defects diaphragmatic defects fetal valproate syndrome and syndromes of unknown etiology. Omphalocele diaphragmatic defects radial anom alies and. Omphalocele is caused by malrotation of the bowels while returning to the abdomen during development.

Genetics of bws genes associated with bws at the chromosome region of 11p15 are organized into two distinct syndromes and disorders associated with omphalocele i. The most common is beckwith wiedemann syndrome 12. This article provides a comprehensive review of omphalocele related disorders.

Single gene disorders neural tube defects diaphragmatic defects and others. Omphalocele can be associated with single gene disor ders neural tube defects diaphragmatic defects fetal valproate syndrome and syndromes of unknown etiol ogy. Some cases of omphalocele are believed to be due to an underlying genetic disorder such as edward s syndrome trisomy 18 or patau syndrome trisomy 13.

Malformations of the musculoskeletal system 31 23 5 urogenital system 27 20 4 cardiovascular system 20 15 1 and central nervous system 12 9 1 were the most common other congenital malformations in patients with omphalocele and non syndromic mca. Abbreviated bws is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Lethal omphalocele cleft palate syndrome.

This article provides a comprehensive review of omphalocele related disorders. The organs are covered in a thin nearly transparent sac that hardly ever is open or broken.

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