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Congenital contractural arachnodactyly

Also Known As:
Arachnodactyly, contractural Beals type; Beals syndrome; Beals-Hecht syndrome; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Networked: 73 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Ramirez, Francesco: 4 articles (06/2015 - 11/2007)
2. Reinhardt, Dieter P: 4 articles (01/2011 - 12/2002)
3. Smaldone, Silvia: 3 articles (06/2015 - 03/2010)
4. Taniguchi, Yuki: 2 articles (10/2015 - 01/2015)
5. Komuro, Issei: 2 articles (10/2015 - 01/2015)
6. Takeda, Norifumi: 2 articles (10/2015 - 01/2015)
7. Morita, Hiroyuki: 2 articles (10/2015 - 01/2015)
8. Charbonneau, Noe L: 2 articles (06/2015 - 12/2002)
9. Sakai, Lynn Y: 2 articles (06/2015 - 12/2002)
10. Finsterer, Josef: 2 articles (11/2013 - 04/2007)

Related Diseases

1. Marfan Syndrome (Marfan's Syndrome)
2. Ectopia Lentis
01/01/1992 - "Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly."
04/02/1992 - "Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral-valve prolapse to the fibrillin gene on chromosome 5; studies of chromosome 15 were not informative. "
04/02/1992 - "Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study."
04/02/1992 - "The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). "
11/01/2000 - "The following disorders will be discussed in this review: supravalvular aortic stenosis; Williams-Beuren syndrome; cutis laxa; Marfan syndrome; ectopia lentis; familial thoracic aortic aneurysms and dissections; MASS syndrome; isolated skeletal features of Marfan syndrome; Shprintzen-Goldberg syndrome; and congenital contractural arachnodactyly."
3. Mitral Valve Prolapse
4. Arachnodactyly
5. Contracture

Related Drugs and Biologics

1. fibrillin
2. Congenital contractural arachnodactyly
3. Arthrogryposis multiplex congenita
4. Marden Walker like syndrome
5. Freeman-Sheldon syndrome
6. Proteins (Proteins, Gene)
7. Multiple pterygium syndrome
8. mental subnormality pyorrhea epilepsy Alopecia
9. Neuraminidase deficiency with beta-galactosidase deficiency
10. Familial ectopia lentis