Rare Diseases Symptoms Automatic Extraction

Kabuki syndrome and cancer in two patients.

[kabuki syndrome]

Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.

Diseases presenting "neuroblastoma" symptom

  • adrenal incidentaloma
  • alpha-thalassemia
  • cohen syndrome
  • congenital adrenal hyperplasia
  • esophageal adenocarcinoma
  • gm1 gangliosidosis
  • hirschsprung disease
  • kabuki syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • pyruvate dehydrogenase deficiency
  • triple a syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated