Genetic counseling: Beal's Syndrome

Beal's Syndrome

Introduction

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

Contracting

 * 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)

 * 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)

Resources

 * 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: