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

Orpha code: 397927OMIM code: 615709

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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