Cardiocranial syndrome, Pfeiffer type (Q94134): Difference between revisions

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Latest revision as of 09:15, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_629231429
English	Cardiocranial syndrome, Pfeiffer type	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.