Cardiocranial syndrome, Pfeiffer type

Not to be confused with Pfeiffer syndrome or Pfeiffer's disease.

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.

Cardiocranial syndrome, Pfeiffer type
Other names	Cardiocranial syndrome Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis Pfeiffer Singer Zschiesche syndrome

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.