| Cardiocranial syndrome, Pfeiffer type | |
| Synonyms: | Cardiocranial syndrome Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis Pfeiffer Singer Zschiesche syndrome |
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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.[1] [2] [3] [4]
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.
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.