Find all needed information about Beals Syndrome Support. Below you can see links where you can find everything you want to know about Beals Syndrome Support.
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).
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...
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
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
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.
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
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 …
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 ...
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).
Need to find Beals Syndrome Support information?
To find needed information please read the text beloow. If you need to know more you can click on the links to visit sites with more detailed data.