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Microgastria-limb reduction defect syndrome

ORPHA:2538· ICD-10 Q87.8

Definition

A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable
Age of onset
Infancy, Neonatal