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Palmer pagon syndrome

MedGen UID:
419886
Concept ID:
C2931734
Disease or Syndrome
Synonym: Familial hydrocephalus with a low-insertion umbilicus
SNOMED CT: Palmer Pagon syndrome (1208346003); Congenital hydrocephalus, low insertion of umbilicus syndrome (1208346003)
 
Monarch Initiative: MONDO:0043164
Orphanet: ORPHA2184

Definition

A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmer pagon syndrome

Recent clinical studies

Diagnosis

Berrocal AM, Scott IU, Flynn HW Jr
Ophthalmic Surg Lasers Imaging 2004 May-Jun;35(3):256-8. PMID: 15185798

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