Handbook of Genetic Counseling/Beal's Syndrome
Beal's Syndrome
Introduction
[edit | edit source]- What do you know about why you're here?
Contracting
[edit | edit source]- 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 | edit source]- 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 | edit source]Notes
[edit | edit source]The information in this outline was last updated in 1957.