congenital contractural arachnodactyly
Congenital contractural arachnodactyly (CCA) (also known as Beals syndrome) is a rare connective tissue disorder that bears phenotypic similarities to Marfan syndrome, but is genetically distinct. Affected individuals have arachnodactyly, muscle contractures and ear anomalies, but without any ocular or cardiac anomalies.
Pathology
Genetics
Congenital contractural arachnodactyly is caused by mutations of the FBN2 gene (5q23), which encodes for fibrillin-2 (defects in fibrillin-1 cause Marfan syndrome). It is inherited in an autosomal dominant manner .
History and etymology
The first description of the disorder was by, two Americans, pediatric orthopedic surgeon, Rodney K Beals (fl. 2019) and pediatrician and geneticist, Frederick Hecht (fl. 2019) in an article in 1971 .
Differential diagnosis
- Marfan syndrome: major phenotypic overlap
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Kongenitale Kontrakturale Arachnodaktylie:
