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Marfanoid syndrome, De Silva type

Disease definition

Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.

ORPHA:2464

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood, Adult
  • ICD-10: -
  • OMIM: 223330
  • UMLS: C1857227
  • MeSH: -
  • GARD: 3401
  • MedDRA: -
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