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Lambert syndrome

Disease definition

Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.

ORPHA:1296

Classification level: Disorder
  • Synonym(s):
    • Branchial dysplasia-intellectual disability-inguinal hernia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 245550
  • UMLS: C1855551
  • MeSH: C538396
  • GARD: 3169
  • MedDRA: -
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