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Beal's Syndrome

IntroductionEdit

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

ContractingEdit

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

Beals Syndrome (Contractural Arachnodactyly Syndrome)Edit

• Basic features
  • Long slender limbs and fingers (arachnodactyly) 86%
  • Bent fingers (camptodactyly) 78%
  • Joint contractures, esp.knees (stiff joints), elbows, hips
  • Short neck
  • Decreased calcification of the bones
  • Bending of the spine (kyphoscoliosis)
  • Inward turned feet (metatarsus varus)
  • Ears = elongated lobes with crumpled 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)

ResourcesEdit

• 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]

NotesEdit

The information in this outline was last updated in 2000.

Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."