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Lymphedema-atrial septal defects-facial changes syndrome

Disease definition

Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.

ORPHA:86915

  • Synonym(s):
    • Irons-Bhan syndrome
    • Irons-Bianchi syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 601927
  • UMLS: C2677167
  • MeSH: -
  • GARD: 284
  • MedDRA: -

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