Hydrocephaly-low insertion umbilicus syndrome

Orpha code: 2184OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Palmer-Pagon syndrome
Zespół Palmera i Pagona
Kod ORPHA
2184
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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