An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. 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.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3321521017
Cardiocranial syndrome Pfeiffer type
Active
Synonym
false
false
3321522012
Craniosynostosis with congenital heart disease and intellectual disability syndrome
Active
Synonym
false
false
3321523019
Pfeiffer Singer Zschiesche syndrome
Active
Synonym
false
false
3321524013
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis