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

Notes

The information in this outline was last updated in 2000.