Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide.
Signs and symptoms Features of this condition include: Abnormal heart morphology Abnormality of cardiovascular system morphology Aplasia uvulae Cleft palate Cryptorchidism Hypertelorism Low-set, dysplastic ears Micropenis Micrognathia (or retrognathia) Sagittal craniosynostosis Strabismus Trismus Intellectual disability Abnormal tracheobronchial morphology Growth delay Symptoms also reported include large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys; a few cases did not show cardiac anomalies.
Causes The condition is genetic but its origins are unclear. The condition has been seen in brother-sister sibling pairs, suggesting autosomal recessive inheritance, however autosomal dominant inheritance and submicroscopic deletions (not inherited) have been suggested.
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