Rare Diseases Symptoms Automatic Extraction

[Holt-Oram syndrome and portal extrahepatic hypertension. A case report].

[holt-oram syndrome]

The Holt-Oram syndrome (HOS) is characterized by skeletal abnormalities, frequently accompanied by congenital cardiac defects. It was first described by Holt and Oram in 1960. It has a prevalence of 0.95/10,000 live newborns. The syndrome shows a dominant autosomic heritance with high penetrance. A mutation in the transcription gene factor TBX5 has been identified. This factor has been shown to be important in the heart and upper extremities development.A 17 year-old boy with muscle-skeletal abnormalities in forearms and hands, with implantation defects of thumbs and narrow shoulders as well as wide atrial septal defect type osteum secundum. He also showed portal cavernomatosus degeneration which conditioned portal extrahepatic hypertension and esophageal varicose veins. The diagnosis was established by clinical, radiological and auxiliary studies. His parents were also studied, and they did not show abnormalities.Two previous cases have been reported in the Mexican medical literature, both due to de novo genetic mutation. However, none has been associated with portal cavernomatosus degeneration and portal hypertension.

Diseases presenting "hypertension" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • cadasil
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cystinuria
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated