| Metadata | |
|---|---|
| ID | DOID:0111595 |
| Name | congenital contractural arachnodactyly |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/4552107, https://www.ncbi.nlm.nih.gov/pubmed/9106527, https://www.ncbi.nlm.nih.gov/pubmed/9714438 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205821003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
arachnodactyly, contractural Beals type [EXACT] Beals syndrome [EXACT] Beals-Hecht syndrome [EXACT] CCA [EXACT] contractures, multiple with arachnodactyly [EXACT] distal arthrogryposis type 9 [EXACT] ear anomalies-contractures-dysplasia of bone with kyphoscoliosis [EXACT] |
| Parent Relationships |
is_a physical disorder |