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Module 2 Guided Questions Per announcement: focus on OB, PAP testing, genetics, scrotal disorders, and hormonal medications What causes genetic disorders?  Genetic disorders can be caused by a mutation in one or multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes What makes up the diagnostic criteria for common genetic disorders? Disorder Physical characteristics Developmental characteristics Cause/ Diagnosis Downs Syndrome Flat face Upward slanted palpebral fissures Small ears Epicanthal fold Simian crease Protruding tongue Short neck Hypotonia, decreased Moro reflex Obesity Issues with expressive language Some degree of developmental delay in all, may be highfunctioning though Self-help skills delayed Alzheimer’s Often found in prenatal testing Definitive is chromosomal analysis Trisomy of chromosome 21 Prader-Willi Syndrome Narrow temple distance Narrow nasal bridge Narrow upper lip Obesity Light colored in complexion, hair, eyes Insatiable appetite (hyperphasia) Early life: feeding difficulties and hypotonia Delayed physical and cognitive development Delayed puberty OCD features in @ 50% Genetic testing Chromosome 15- deleted or unexpressed Turner’s Syndrome Short stature Congenital lymphedema Webbed neck Scoliosis Colorblindness, cataracts, strabismus Primary amenorrhea (cannot diagnose until age 16) Delayed thelarche Hypothyroidism Widespread nipples Learning difficulties ADHD Gonadal dysgenesis Heart defects Females only Chromosomal analysis can be found prenatally A single Xchromosome Fragile X Syndrome Large, protruding ears Elongated face/ forehead High, arched palate scoliosis Macro-orchidism Hyper-extensible joints Short stature Obesity Mental retardation Autism ADHD Anxiety (esp. social) Gross motor delays- r/t hypotonia Fine motor delays Low IQ Speech and language delays Seizures Premature ovarian failure Early menopause More frequent and more severe in males Molecular analysis to diagnoseprenatally or postnatally Fragile site on X chromosome, location affects severity of disease Fetal Alcohol Syndrome Short palpebral fissure Epicanthal folds Low nasal bridge Flat midface Thin upper lip Smooth philtrum Small eye openings Growth retardation/restriction -pre and postnatally CNS dysfunction Mental retardation Congenital heart defects Behavioral disturban