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Pai syndrome

Disease definition

A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.

ORPHA:1993

Classification level: Disorder
  • 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: -
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