Cardiocranial syndrome, Pfeiffer type

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Synonyms: Craniosynostosis-congenital heart disease-intellectual disability syndrome | Pfeiffer-Singer-Zschiesche syndrome

A rare multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis hypertelorism strabismus low-set dysplastic ears retrognathia or micrognathia mandibular ankyloses cleft palate aplasia uvulae) congenital heart defects (e.g. atrioventricular septal defect anomalous venous return) genital anomalies (e.g. cryptorchidism microphallus) as well as growth delay and intellectual disability. In some cases tracheobronchial anomalies large joint contractures syndactyly rib anomalies and hypoplastic kidneys are reported. Rarely no cardiac anomaly may be reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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