Beals Syndrome Support

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Congenital contractural arachnodactyly - Genetics Home ...

    https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly
    Oct 29, 2019 · Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly).

Beals Syndrome Support Network Public Group Facebook

    https://www.facebook.com/groups/88619691638
    Beals Syndrome Support Network has 345 members. A network of families living with Beal's Syndrome. We screen for membership. Please look in "OTHER" inbox...

Congenital contractural arachnodactyly (Beals syndrome)

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524931/
    Jun 01, 2006 · Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be ...Cited by: 68

Congenital Contractural Arachnodactyly - GeneReviews ...

    https://www.ncbi.nlm.nih.gov/books/NBK1386/
    Jan 23, 2001 · Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly). Most affected individuals have “crumpled” ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth. The proximal ...Cited by: 11

BEALS SYNDROME - The Marfan Foundation

    http://info.marfan.org/beals-syndrome
    BEALS SYNDROME. Beals syndrome is a disorder of connective tissue. The syndrome was first explained by Beals and Hecht in 1971. Features of Beals syndrome are found throughout the body, especially in large joints.

Congenital contractural arachnodactyly (Beals syndrome ...

    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-20
    Jun 01, 2006 · Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), …Cited by: 68

Congenital contractural arachnodactyly Genetic and Rare ...

    https://rarediseases.info.nih.gov/diseases/5899/congenital-contractural-arachnodactyly
    51 rows · Jan 31, 2017 · My nephew has been diagnosed with Beals syndrome (also known as …

BEALS SYNDROME - The Marfan Foundation

    https://www.marfan.org/download/file/fid/154/Beals%20Syndrome.pdf
    Beals syndrome is a disorder of connective tissue. The syndrome was first explained by Beals and Hecht in 1971. Features of Beals syndrome are found throughout the body, especially in large joints. What other names do people use for Beals syndrome? Beals syndrome is also referred to as Congenital Arachnodactyly (CCA). How prevalent is Beals ...

OMIM Entry - # 121050 - CONTRACTURAL ARACHNODACTYLY ...

    https://www.omim.org/entry/121050
    Beals and Hecht (1971) described father and 2 sons affected in 1 kindred and father, daughter and son (by different mothers) affected in a second kindred. They proposed that the disorder be called 'contractural arachnodactyly' and further suggested that the patient reported by Marfan (1896) had this disorder rather than the Marfan syndrome as presently delineated (Hecht and Beals, 1972).



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