Handbook of Genetic Counseling/FG Syndrome-2

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FG syndrome

Introduction[edit]

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

Contracting[edit]

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

Medical History[edit]

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

Family Hx[edit]

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

F-G syndrome[edit]

  • 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[edit]

  • FG syndrome Family Alliancee
www.geocities.com/HotSprings/Spa/3687/index.html
  • FAQ's about FG syndrome

Notes[edit]

The information in this outline was last updated in 2000.