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Learn About X-Linked Visceral Heterotaxy 1

What is the definition of X-Linked Visceral Heterotaxy 1?
X-linked visceral heterotaxy type 1 is a rare form of heterotaxy. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by genetic changes in the ZIC3 gene, is inherited in an X-linked recessive fashion. It is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus.
What are the alternative names for X-Linked Visceral Heterotaxy 1?
  • X-linked visceral heterotaxy 1
  • HTX1
  • Heterotaxy, visceral, 1, X-linked
  • Heterotaxy, visceral, X-linked
  • Laterality, X-linked
  • Situs inversus, complex cardiac defects, and splenic defects, X-linked
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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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