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Pallister-Hall syndrome

Disease definition

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

ORPHA:672

Classification level: Disorder
  • Synonym(s):
    • Hypothalamic hamartoblastoma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 146510
  • UMLS: C0265220  C0342418
  • MeSH: D054975
  • GARD: 7305
  • 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.