Contractural arachnodactyly, congenital

Preferred Label : Contractural arachnodactyly, congenital;

Symbol : CCA;

CISMeF acronym : CCA; DA9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Beals syndrome; Arthrogryposis, distal, type 9; DA9;

Description : Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 2 gene (FBN2, 121050.0001);

Prefixed ID : #121050;

Details

Origin ID

121050;

UMLS CUI

C0220668;

Automatic exact mappings (from CISMeF team)
- Canonical Correlation Analysis [MeSH Descriptor]
- fibrillin 2 [ORDO Gene]
- symbol withdrawn CCA [HGNC gene]
Currated CISMeF NLP mapping
- Congenital Contractural Arachnodactyly [NCIt concept]
- Congenital contractural arachnodactyly [ORDO Disease]
- Congenital contractural arachnodactyly [ICD-11 Sub-sub category]
- Congenital contractural arachnodactyly [MeSH concept]
- Congenital contractural arachnodactyly (disorder) [SNOMED CT concept]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- arthrogryposis distal type 9 [Disease (Nov.)]
- congenital contractural arachnodactyly [DO Concept]
- congenital contractural arachnodactyly [MeSH Supplementary Concept]
DO Cross reference
- congenital contractural arachnodactyly [DO Concept]
- distal arthrogryposis [DO Concept]
False automatic mappings
- Cholangiocarcinoma [ORDO Disease]
- FBN2 wt Allele [NCIt concept]
- substance abuse treatment centers [MeSH Descriptor]
Genes related to phenotype
- Fibrillin 2 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bowing of the long bones [HPO term]
- Brachycephaly [HPO term]
- Calf muscle hypoplasia [HPO term]
- Camptodactyly [HPO term]
- Congenital finger flexion contractures [HPO term]
- Congenital kyphoscoliosis [HPO term]
- Congenital onset [HPO term]
- Contractures of the proximal interphalangeal joints of the fingers [HPO term]
- Crumpled ear [HPO term]
- Disproportionate tall stature [HPO term]
- Distal arthrogryposis [HPO term]
- Dolichocephaly [HPO term]
- Ectopia lentis [HPO term]
- Elbow flexion contracture [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip contracture [HPO term]
- Increased upper to lower segment ratio [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Limited elbow extension [HPO term]
- Limited knee extension [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Osteopenia [HPO term]
- Patellar dislocation [HPO term]
- Patellar subluxation [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Poorly formed pinnae [HPO term]
- Scaphocephaly [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar deviation of finger [HPO term]
- Ventricular septal defect [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Congenital contractural arachnodactyly [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Contractural Arachnodactyly [NCIt concept]
- Congenital contractural arachnodactyly [ORDO Disease]
- Congenital contractural arachnodactyly [MeSH concept]
- Congenital contractural arachnodactyly (disorder) [SNOMED CT concept]
- arthrogryposis distal type 9 [Disease (Nov.)]
- congenital contractural arachnodactyly [MeSH Supplementary Concept]
- congenital contractural arachnodactyly [DO Concept]

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