Handbook of Genetic Counseling/Beal's Syndrome

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Beal's Syndrome

Introduction[edit]

  • What do you know about why you're here?

Contracting[edit]

  • Get medical information about *Get some pregnancy history
  • Get family history
  • Doctor will examine
  • Discuss findings and answer any questions

Beals Syndrome (Contractural Arachnodactyly Syndrome)[edit]

  • Basic features
    • appearance
    • Occasional micrognathia, scaphocephaly, iris coloboma, ASD and VSD
  • Changes as the child grows
    • Gradual improvement in joint movements
  • Genetics
    • Autosomal dominant
    • Linked to fibrillin locus on chrom. 5 (FBN2 gene)
  • National Organization for Rare Disorders, Inc.(NORD)
P.O. Box 8923
New Fairfield, CT 06812-8923
Telephone: (203) 746-6518
Fax: (203) 746-6481
Toll free: (800) 999-6673
TDD: (203) 746-6927
e-mail: orphan@rarediseases.org
Home Page: [1]

Resources[edit]

Notes[edit]

The information in this outline was last updated in 1957.