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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-midline facial 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: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.