Ontology highlight
ABSTRACT:
SUBMITTER: Tuncbilek E
PROVIDER: S-EPMC1524931 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
Tunçbilek Ergül E Alanay Yasemin Y
Orphanet journal of rare diseases 20060601
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant ...[more]