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Wolf-Hirschhorn syndrome

Disease definition

A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

ORPHA:280

Classification level: Disorder
  • Synonym(s):
    • 4p- syndrome
    • Distal deletion 4p
    • Distal monosomy 4p
    • Telomeric deletion 4p
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Multigenic/multifactorial 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.3
  • OMIM: 194190
  • UMLS: C1956097
  • MeSH: C536740  D054877
  • GARD: 7896
  • MedDRA: 10050361

Detailed information

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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.