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RAPADILINO syndrome

Disease definition

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

ORPHA:3021

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 266280
  • UMLS: C1849453
  • MeSH: C535288
  • GARD: 4637
  • MedDRA: -

Additional information

Specialised Social Services

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