Cardiocranial syndrome, Pfeiffer type

MONDO:0009036

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: Pfeiffer-Singer-Zschiesche syndrome, craniosynostosis-congenital heart disease-intellectual disability syndrome, sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis, Cardiocranial syndrome, Pfeiffer Cardiocranial syndrome, Pfeiffer Singer Zschiesche syndrome, Pfeiffer-type cardiocranial syndrome, craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis

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