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Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

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Description

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    615709

  • Orphanet

    397927

  • HPO
  • Medgen

    C3810343

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