Handbook of Genetic Counseling/FG Syndrome-2

FG syndrome

Introduction

 * Myself, GC, Doc
 * What are they expecting today? What concerns do they have?

Contracting

 * Medical Hx/Pregnancy Hx
 * Family Hx
 * Physical Exam
 * Suggestions for testing/diagnosis
 * Answer any questions

Medical History

 * Hearing test?
 * Developmental milestones
 * Behavior issues, when did they start? How severe? Examples?
 * Has he always been floppy?
 * Constipated?

Family Hx

 * Birth defects, MR, cancer at early age, genetic conditions

F-G syndrome

 * Other names: Opitz-Kaveggia syndrome
 * Definition: X-linked condition with the following characteristics
 * Characteristics
 * MR
 * Hypotonia from birth
 * Seizures
 * Large head
 * Cowlick of frontal hairline
 * Hypertelorism
 * Sensorineural deafness
 * Short stature
 * Imperforate anus
 * Constipation
 * Congenital heart defects
 * Broad first toes
 * Attention-seeking behaviors
 * Genetics
 * X-linked recessive
 * Diagnosis
 * clinical

Resources

 * FG syndrome Family Alliancee
 * www.geocities.com/HotSprings/Spa/3687/index.html


 * FAQ's about FG syndrome