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