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.