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- Congenital_contractural_arachnodactyly abstract "Beals syndrome (Congenital contractural arachnodactyly, Beals-Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's Syndrome. It was characterized in 1972.It is associated with FBN2.It is caused by a mutation in FBN2 gene on chromosome 5q23. Contractures of varying degrees at birth, mainly involving the large joints, are present in all affected children. Elbows, knees and fingers are most commonly involved. The contractures may be mild and tend to reduce in severity, but residual camptodactyly always remains present. The arm span exceeds body height but the discrepancy may be underestimated due to contractures of elbows and fingers. The same holds for the lower body portion with knee contractures. The most serious complication in CCA is scoliosis and sometimes kyphoscoliosis mandating surgery.".
- Congenital_contractural_arachnodactyly diseasesdb "29326".
- Congenital_contractural_arachnodactyly omim "121050".
- Congenital_contractural_arachnodactyly wikiPageExternalLink NBK1386.
- Congenital_contractural_arachnodactyly wikiPageID "11336104".
- Congenital_contractural_arachnodactyly wikiPageRevisionID "593844662".
- Congenital_contractural_arachnodactyly diseasesdb "29326".
- Congenital_contractural_arachnodactyly genereviewsname "Congenital Contractural Arachnodactyly".
- Congenital_contractural_arachnodactyly genereviewsnbk "NBK1386".
- Congenital_contractural_arachnodactyly hasPhotoCollection Congenital_contractural_arachnodactyly.
- Congenital_contractural_arachnodactyly name "Beals syndrome".
- Congenital_contractural_arachnodactyly omim "121050".
- Congenital_contractural_arachnodactyly subject Category:Cytoskeletal_defects.
- Congenital_contractural_arachnodactyly subject Category:Systemic_connective_tissue_disorders.
- Congenital_contractural_arachnodactyly type Abstraction100002137.
- Congenital_contractural_arachnodactyly type Attribute100024264.
- Congenital_contractural_arachnodactyly type Condition113920835.
- Congenital_contractural_arachnodactyly type CytoskeletalDefects.
- Congenital_contractural_arachnodactyly type Defect114464005.
- Congenital_contractural_arachnodactyly type Disease114070360.
- Congenital_contractural_arachnodactyly type Disorder114052403.
- Congenital_contractural_arachnodactyly type IllHealth114052046.
- Congenital_contractural_arachnodactyly type Illness114061805.
- Congenital_contractural_arachnodactyly type Imperfection114462666.
- Congenital_contractural_arachnodactyly type PathologicalState114051917.
- Congenital_contractural_arachnodactyly type PhysicalCondition114034177.
- Congenital_contractural_arachnodactyly type State100024720.
- Congenital_contractural_arachnodactyly type SystemicConnectiveTissueDisorders.
- Congenital_contractural_arachnodactyly type Disease.
- Congenital_contractural_arachnodactyly type Situation.
- Congenital_contractural_arachnodactyly comment "Beals syndrome (Congenital contractural arachnodactyly, Beals-Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's Syndrome. It was characterized in 1972.It is associated with FBN2.It is caused by a mutation in FBN2 gene on chromosome 5q23. Contractures of varying degrees at birth, mainly involving the large joints, are present in all affected children.".
- Congenital_contractural_arachnodactyly label "Congenital contractural arachnodactyly".
- Congenital_contractural_arachnodactyly label "Sindrome di Beals".
- Congenital_contractural_arachnodactyly label "先天性攣縮細長指".
- Congenital_contractural_arachnodactyly sameAs Sindrome_di_Beals.
- Congenital_contractural_arachnodactyly sameAs m.02r82xz.
- Congenital_contractural_arachnodactyly sameAs Q3961669.
- Congenital_contractural_arachnodactyly sameAs Q3961669.
- Congenital_contractural_arachnodactyly sameAs Congenital_contractural_arachnodactyly.
- Congenital_contractural_arachnodactyly wasDerivedFrom Congenital_contractural_arachnodactyly?oldid=593844662.
- Congenital_contractural_arachnodactyly isPrimaryTopicOf Congenital_contractural_arachnodactyly.
- Congenital_contractural_arachnodactyly name "Beals syndrome".