Symptoms also reported include large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys; a few cases did not show cardiac anomalies.[2]
Causesedit
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]
cardiocranial, syndrome, pfeiffer, type, confused, with, pfeiffer, syndrome, pfeiffer, disease, rare, multiple, disorder, syndrome, characterized, congenital, heart, defects, sagittal, craniosynostosis, severe, developmental, delay, condition, been, reported, . Not to be confused with Pfeiffer syndrome or Pfeiffer s disease 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 typeOther namesCardiocranial syndromeCraniostenosis sagittal with congenital heart disease mental deficiency and mandibular ankylosisPfeiffer Singer Zschiesche syndromeSigns and symptoms editFeatures 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 delaySymptoms also reported include large joint contractures syndactyly rib anomalies and hypoplastic kidneys a few cases did not show cardiac anomalies 2 Causes editThe 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 edit a b c Cardiocranial syndrome Pfeiffer type Concept Id C1857495 www ncbi nlm nih gov Retrieved 2023 10 10 a b c 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 Retrieved from https en wikipedia org w index php title Cardiocranial syndrome Pfeiffer type amp oldid 1186954816, wikipedia, wiki, book, books, library,
