Genetics Flashcards
What are features of Down’s syndrome?
Face = upslanting palpebral fissures, prominent epicanthic folds, brush field spots in iris, protruding tongue, small low set ears, flat occipital
Single palmar crease
Sandal gap
Hypotonia
What are cardiac associations with Down’s syndrome?
Ventricular septal defect
Atrial septal defect
AV septal canal defect
Tetralogy of Fallot
PDA
What are long-term complications of Down’s syndrome?
Subfertility
Short stature
Recurrent otitis media
Increased risk of ALL
Hypothyrodism
Alzheimer’s
Learning disability
What are clinical features of Klinefelter’s syndrome?
Lack of secondary sexual characteristics
Taller than average
Small testicles
Infertility
Gynaecomastia (increased risk of breast cancer)
LH and FSH = High
Are LH and FSH high or low in Klinefelter’s?
High
What are features of Turner syndrome?
Short stature
Webbed neck
Widely spaced nipples
Primary amenorrhoea
High-arched palate
Cubitus valves
Lymphoedema as a neonate (esp of feet)
What are associated conditions with Turner Syndrome?
Bicuspid aortic valve
Coarctation of the aorta
Recurrent otitis media
Recurrent UTI
What hereditary pattern does Noonan syndrome have?
Autosomal dominant
What are features of Noonan syndrome?
Short stature
Webbed neck
Widely spaced nipples
Broad forehead
Downward facing eyes
Low set ears
Triangular face
Ptosis
What conditions are associated with Noonan Syndrome?
Congenital heart disease - esp pulmonary valve stenosis
Undescended testes
Learning disability
Coagulation problems
What hereditary pattern does Marfan syndrome have?
Autosomal dominant
What are features of Marfan syndrome?
Tall stature
Long neck
Long limbs
Long fingers
High arched palate
Hyper mobility
Pectus excavatum
Pes planus (flat foot)
What conditions are associated with Marfan syndrome?
Upward lens dislocation
Dilation of aortic sinuses - can lead to aortic aneurysm/dissection/regurg
Mitral valve prolapse - can lead to mitral regurgitation
Recurrent pneumothorax
Scoliosis
Ductal ectasia
What medication can be used in Marfan syndrome to reduce morbidity/mortality?
Beta blocker or ACEi
What are features of Fragile X Syndrome?
Intellectual disability
Long thin face
Large ears
High arched palate
Large testicles
Hyper mobility
Autism/ADHD
Hypotonia