Catalog

Cardiocranial syndrome, Pfeiffer type

No MMS code

Link to WHO Definition

Cardiocranial syndrome, Pfeiffer type – http://id.who.int/icd/entity/629231429

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder characterised 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.