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

Orpha code: 397927OMIM code: 615709

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
397927
OMIM code
615709
ICD10 code
Q87.5
ICD11 code
-

No additional description.

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