Clinical concern for disease Flashcards
Turner Syndrome
46 XY/45 X mosaics will have cryptorchidism; given high risk of cancer, any reproductive material in the body needs to be removed
Kleinfelter Syndrome
Very high rate of infertility
Down Syndrome
- 50% of cases have some kind of heart defect, usually ASD
- 12% have intestinal atresia
- Moderate Intellectual defects
Edwards Syndrome
High rate of cardiac defects
Significant concern for aspiration
Poor prognosis, usually fatal early in life
Significant intellectual defects
Patau Syndrome
High rate of cardiac defects
Significant concern for aspiration
Poor prognosis, usually fatal early in life
Significant intellectual defects
Wolf-Hirschorn
Significant mental delays
Poor growth rate
Cri-du-chat
Profound intellectual disability
Poor growth rate
Velo-cardial-facial syndrome
Common psychiatric problems
Cardiac manifestations (esp tetralogy of Falllot)
Tendency to have low blood calcium
William Syndrome
Tendency to have high blood calcium
Mild intellectual disability
Marfan syndrome
HIGH risk of aortic dissection and sudden death
Neurofibromatosis Type I
May have ADHD/Learning deficits
Higher risk of developing other cancers
Tuberous Sclerosis
High risk of seizures due to cortical tubers
Renal cysts common
Achondroplasia
NONE :)
Huntington’s chorea
Neurodegeneration inevitable. Disease is 100% penetrant
Hemochromatosis
High iron levels lead to cardiac failure and cirrhosis
alpha thalassemia
Anemia
Hydrops fetalis
Universally fatal
Fanconi’s anemia
Aside from functional problems, leukemia common in this disease; may have CNS manifestations
Cystic fibrosis
Bronchiectasis, failure to clear mucus and increasing obstructive and restrictive lung disease; weight gain; recurrent and resistant lung infections
Vitamin D resistant Rickets
Skeletal malformations, low blood phosphate
Inconscientia Pigmenti
May have CNS deficits
Retts syndrome
Progressive failure to reach anticipated childhood developmental milestones
G6PD Deficiency
Haemolytic anemia
OTC Deficiency
Hyperammonemia; female carriers can have protein load intolerance
Duchenne Muscular Dystrophy
Progressive loss of skeletal and cardiac muscle integrity, loss of ambulation and daily functioning, eventually requires respirators
Prader-Willi Syndrome
Profound obesity after 2 years of age
Failure to thrive beforehand
Mild intellectual disability
Angelman Syndrome
Profound intellectual disability
Myotonic Dystrophy
Often has comorbidities such as DM or cataracts
Leber Hereditary Optic Neuropathy
Blindness inevitable, but can be delayed if patient avoids smoking and alcohol
MELAS
Nondescript problems-may have seizures, failure to thrive
