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Cardiocranial syndrome, Pfeiffer type

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
  • Q87.8
MeSH -
MedDRA -


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).

Clinical description

Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. Joint and palpebral abnormalities may also occur.


The etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.

Management and treatment

Management depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered.

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