Handbook of Genetic Counseling/Beal's Syndrome

Beal's Syndrome

Introduction

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

Contracting

• 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)

• 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]

Notes

The information in this outline was last updated in 1957.