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