Medicine:Cardiocranial syndrome, Pfeiffer type
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| Cardiocranial syndrome, Pfeiffer type | |
|---|---|
| Other names | Cardiocranial 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
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
- ↑ 1.0 1.1 1.2 "Cardiocranial syndrome, Pfeiffer type (Concept Id: C1857495)" (in en). https://www.ncbi.nlm.nih.gov/medgen/?term=Cardiocranial+syndrome,+Pfeiffer+type.
- ↑ 2.0 2.1 2.2 "Orphanet: Cardiocranial Syndrome, Pfeiffer Type". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872.
- ↑ "GARD Rare Disease Information - Pfeiffer-type cardiocranial syndrome - National Organization for Rare Disorders" (in en-US). 2022-06-16. https://rarediseases.org/gard-rare-disease/pfeiffer-type-cardiocranial-syndrome/.
- ↑ "About: Cardiocranial syndrome, Pfeiffer type". https://rarediseases.oscar.ncsu.edu/disease/cardiocranial-syndrome-pfeiffer-type/about/.
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