Cardiocranial syndrome, Pfeiffer type
Cardiocranial syndrome, Pfeiffer type
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).
Also known as craniosynostosis-congenital heart disease-intellectual disability syndrome, Pfeiffer-Singer-Zschiesche syndrome, sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis — per MONDO