Orphanet: Hydrocephaly low insertion umbilicus syndrome

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Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.

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Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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