Microgastria-limb reduction defect syndrome

Orpha code: 2538OMIM code: 156810

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
2538
Kod OMIM
156810
Kod ICD10
Q87.8
Kod ICD11
LD2F.1Y

No additional description.

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