Hydrocephaly-low insertion umbilicus syndrome

Orpha code: 2184OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Palmer-Pagon syndrome
Zespół Palmera i Pagona
ORPHA code
2184
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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