Cardiocranial syndrome, Pfeiffer type

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version May 2024

Newly diagnosed with
Cardiocranial syndrome, Pfeiffer type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.