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Cardiocranial syndrome, Pfeiffer type

Disease definition

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).

ORPHA:2872

  • Synonym(s):
    • Craniosynostosis-congenital heart disease-intellectual disability syndrome
    • Pfeiffer-Singer-Zschiesche syndrome
    • Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 218450
  • UMLS: -
  • MeSH: -
  • GARD: 8586
  • MedDRA: -

Additional information

Further information on this disease

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