/cardiocranial syndrome, Pfeiffer type

cardiocranial syndrome, Pfeiffer type

Rare Disease

MONDO:0009036

Also Known As

Pfeiffer-Singer-Zschiesche syndromecraniosynostosis-congenital heart disease-intellectual disability syndromesagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosisCardiocranial syndromePfeiffer Cardiocranial syndromePfeiffer Singer Zschiesche syndromePfeiffer-type cardiocranial syndromecraniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis

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).