| 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.
Signs and symptoms
Features of this condition include:
- 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.
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.
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.