FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital contractural arachnodactyly ID (Ontology) DOID:0111595 (Human Disease)
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.
Also Known As "arachnodactyly, contractural Beals type" ; "Beals syndrome" ; "Beals-Hecht syndrome" (for all, see Synonyms field below)
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 Genes
 congenital contractural arachnodactyly       2
 for disease ribbon | congenital contractural arachnodactyly       2
 model of | congenital contractural arachnodactyly       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__physical disorder___________|
muscle tissue disease           |
 |__distal arthrogryposis_______|
                                congenital contractural arachnodactyly  2 rec.
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Is a distal arthrogryposis
autosomal dominant disease
physical disorder
Part of
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Synonyms
  • "arachnodactyly, contractural Beals type" EXACT
    "Beals syndrome" EXACT
    "Beals-Hecht syndrome" EXACT
    "CCA" EXACT OMO:0003012
    "contractures, multiple with arachnodactyly" EXACT
    "distal arthrogryposis type 9" EXACT
    "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" EXACT
Secondary IDs
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MESH:C536211
MIM:121050
NCI:C129865
ORDO:115
SNOMEDCT_US_2023_03_01:205821003
UMLS_CUI:C0220668