Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Cardiocranial syndrome, Pfeiffer type

Orpha number ORPHA2872
Synonym(s) Craniosynostosis - congenital heart disease - intellectual disability
Pfeiffer-Singer-Zschiesche syndrome
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Autosomal recessive
Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
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.