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 Cause/ Diagnosis
characteristics
Downs Flat face Issues with expressive language Often found in
Syndrome Upward slanted palpebral fissures Some degree of developmental prenatal testing
Small ears delay in all, may be high- Definitive is
Epicanthal fold functioning though chromosomal
Simian crease Self-help skills delayed analysis
Protruding tongue Alzheimer’s
Short neck Trisomy of
Hypotonia, decreased Moro reflex chromosome 21
Obesity
Prader-Willi Narrow temple distance Early life: feeding Genetic testing
Syndrome Narrow nasal bridge difficulties and hypotonia
Narrow upper lip Delayed physical and Chromosome 15-
Obesity cognitive development deleted or
Light colored in complexion, hair, eyes Delayed puberty unexpressed
Insatiable appetite (hyperphasia) OCD features in @ 50%
Turner’s Short stature Primary amenorrhea (cannot Females only
Syndrome Congenital lymphedema diagnose until age 16)
Webbed neck Delayed thelarche Chromosomal
Scoliosis Hypothyroidism analysis can be
Colorblindness, cataracts, strabismus Widespread nipples found prenatally
Learning difficulties A single X-
ADHD chromosome
Gonadal dysgenesis
Heart defects
Fragile X Large, protruding ears Mental retardation More frequent and
Syndrome Elongated face/ forehead Autism more severe in
High, arched palate ADHD males
scoliosis Anxiety (esp. social) Molecular analysis
Macro-orchidism Gross motor delays- r/t to diagnose-
Hyper-extensible joints hypotonia prenatally or
Short stature Fine motor delays postnatally
Obesity Low IQ
Speech and language delays Fragile site on X
Seizures chromosome,
Premature ovarian failure location affects
Early menopause severity of disease
Fetal Short palpebral fissure Growth retardation/restriction ETOH crosses
Alcohol Epicanthal folds -pre and postnatally placenta and
Syndrome Low nasal bridge CNS dysfunction blood-brain barrier
Flat midface Mental retardation
Thin upper lip Congenital heart defects
Smooth philtrum Behavioral disturbances
Small eye openings
Page 1|9
, Short nose
Microcephaly
Klinefelter’ Small testes and penis Need for testosterone Extra X
s Syndrome Reduced body hair replacement chromosome-
Gynecomastia Infertility random (not
Long legs/ short trunk Learning disabilities inherited)
Delayed speech and language Karyotyping to
development diagnose
Sexual problems
ADHD
Page 2|9
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 Cause/ Diagnosis
characteristics
Downs Flat face Issues with expressive language Often found in
Syndrome Upward slanted palpebral fissures Some degree of developmental prenatal testing
Small ears delay in all, may be high- Definitive is
Epicanthal fold functioning though chromosomal
Simian crease Self-help skills delayed analysis
Protruding tongue Alzheimer’s
Short neck Trisomy of
Hypotonia, decreased Moro reflex chromosome 21
Obesity
Prader-Willi Narrow temple distance Early life: feeding Genetic testing
Syndrome Narrow nasal bridge difficulties and hypotonia
Narrow upper lip Delayed physical and Chromosome 15-
Obesity cognitive development deleted or
Light colored in complexion, hair, eyes Delayed puberty unexpressed
Insatiable appetite (hyperphasia) OCD features in @ 50%
Turner’s Short stature Primary amenorrhea (cannot Females only
Syndrome Congenital lymphedema diagnose until age 16)
Webbed neck Delayed thelarche Chromosomal
Scoliosis Hypothyroidism analysis can be
Colorblindness, cataracts, strabismus Widespread nipples found prenatally
Learning difficulties A single X-
ADHD chromosome
Gonadal dysgenesis
Heart defects
Fragile X Large, protruding ears Mental retardation More frequent and
Syndrome Elongated face/ forehead Autism more severe in
High, arched palate ADHD males
scoliosis Anxiety (esp. social) Molecular analysis
Macro-orchidism Gross motor delays- r/t to diagnose-
Hyper-extensible joints hypotonia prenatally or
Short stature Fine motor delays postnatally
Obesity Low IQ
Speech and language delays Fragile site on X
Seizures chromosome,
Premature ovarian failure location affects
Early menopause severity of disease
Fetal Short palpebral fissure Growth retardation/restriction ETOH crosses
Alcohol Epicanthal folds -pre and postnatally placenta and
Syndrome Low nasal bridge CNS dysfunction blood-brain barrier
Flat midface Mental retardation
Thin upper lip Congenital heart defects
Smooth philtrum Behavioral disturbances
Small eye openings
Page 1|9
, Short nose
Microcephaly
Klinefelter’ Small testes and penis Need for testosterone Extra X
s Syndrome Reduced body hair replacement chromosome-
Gynecomastia Infertility random (not
Long legs/ short trunk Learning disabilities inherited)
Delayed speech and language Karyotyping to
development diagnose
Sexual problems
ADHD
Page 2|9
