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Pai syndrome

Disease definition

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.

ORPHA:1993

  • Synonym(s):
    • Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 155145
  • UMLS: C1835087
  • MeSH: -
  • GARD: 3439
  • MedDRA: -

Additional information

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