OBO ID: DOID:0111595
Term Name: congenital contractural arachnodactyly Search Ontology:
Synonyms:
  • arachnodactyly, contractural Beals type
  • Beals syndrome
  • Beals-Hecht syndrome
  • CCA
  • 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 FBN2 on chromosome 5q23.3. (3)
References:
Ontology: Human Disease   (DOID:0111595)
OTHER congenital contractural arachnodactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBN2 Contractural arachnodactyly, congenital 121050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None