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.[1][2][3][4]

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

Signs and symptoms

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Features of this condition include:[1][2]

Symptoms also reported include large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys; a few cases did not show cardiac anomalies.[2]

Causes

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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.[1]

References

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  1. ^ a b c "Cardiocranial syndrome, Pfeiffer type (Concept Id: C1857495)". www.ncbi.nlm.nih.gov. Retrieved 2023-10-10.
  2. ^ a b c "Orphanet: Cardiocranial Syndrome, Pfeiffer Type". Orphanet. Retrieved October 10, 2023.
  3. ^ "GARD Rare Disease Information - Pfeiffer-type cardiocranial syndrome - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-10-10.
  4. ^ "About: Cardiocranial syndrome, Pfeiffer type". Rare Disease InfoHub. Retrieved October 10, 2023.