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congenital contractural arachnodactyly
Summary
- Synonym
-
- Beals syndrome
- Beals-Hecht syndrome
- CCA
- arachnodactyly, contractural Beals type
- contractures, multiple with arachnodactyly
- distal arthrogryposis type 9
- ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
- Definition
- A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
- Super Class
- autosomal dominant disease distal arthrogryposis physical disorder
External Links
- Disease Ontology
- DOID:0111595
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
