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Cardiocranial syndrome, Pfeiffer type

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

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]

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.