Cardiocranial syndrome, Pfeiffer type

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: Symptoms also reported include large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys; a few cases did not show cardiac anomalies.
 * 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

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.