genetics Flashcards
What are the features of Williams Syndrome
Cocktail party personality
hypercalcemia
supravalvular aortic stenosis
MR
What are the features of Noonan syndrome
AUTOSOMAL DOMINANT short stature pulmonic stenosis webbed neck low set ears 50% have factor 11 def causing prolonged PTT
What are the features of VACTERL
vertebral anomalies- hemivertebra anal anomalies cardiac anomalies i.e VSD, ASD most common Tracheo-Esophageal fistula Renal anomalies Limb anomalies (esp radial ray)
What syndrome should you think of with congenital cataracts?
WAGR W-wilms tumor A-aniridia G-Genitourinary R- retardation need renal USS as screening
WHat is the most common form of inheritance of idiopathic congenital catarcts?
autosoma dominant
What diagnosis should you consider if you see a bifid uvula?
submucosal cleft palate syndrome
What are the associated risks with submucosal cleft palate syndrome? What should you screen for?
conductive hearing loss, middle ear effusion, hypernasal speech. Screen with frequent audiometric exams
what are the renal complications of neurofibromatosis type 1?
Renal artery stenosis and secondary hypertension
What is Gordon syndrome?
Pseudohypoaldosteronism
- genetic defect causing increased NaCl reabsorption in distal tubule
- consequence: fluid overload and hypertension, decreased K+ secretion
- hypokalemia, metabolic acidosis
What is Liddle Syndrome?
Autosomal dominant
primary increase in collecting tubule sodium reabsorption and K+ secretion
Signs a kin to mineralocorticoid excess:
Hypernatremia, hypokalemia, metabolic acidosis, hypertension
What are the growth findings associated with turner syndrome?
unexplained short stature
What are the pubertal findings in turner syndrome?
ovarian failure–> markedly elevated FSH
What are the most common cardiac anomalies in turner syndrome?
Hypoplastic left heart
coarctation of the aorta
What are the characteristic facies in turner syndrome
low set ears
small mandible
low hairline
What are the skeletal anomalies in turner syndrome
Congenital hip dislocation
shortened 4th metacarpal
scoliosis
cubitus valgus
what are the skin and nail findings in turner syndrome?
- hypoplastic, hyperconvex nails
- widespread nipples
- edema of hands or feet
- shield chest
- nuchal folds
- multiple pigmented nevi
high arched palate and chronic otitis media
associated with turner syndrome
WHat are the clinical features of DiGeorge syndrome?
C- cardiac anomalies (conotruncal) A- abnormal facies T- thymic anomalies C- cleft palate H- hypocalcemia
What is the risk of carbamazepine exposure during pregnancy?
What is the risk of methotrexate exposure during pregnancy?
b/w 6-9 weeks gestation at >10mg/week can cause craniosynostosis, craniofacial abnormalities and limb defects
What is the risk of ACE inhibitors during pregnancy
2nd and 3rd trimester: renal dysgenesis, oligohydramnios and skull ossification defects
Lithium
Phenytoin exposure in 1st trimester:
10% risk of fetal hydantoin syndrome:
What are the cardinal features of ataxia-telangiectasia syndrome
ataxia telagiectasia CNS dysfunction growth failure malignancies *increased risk of breast ca
What are the cardinal features of xeroderma pigmentosa?
photosensitivity- clear extreme blistering within minutes of sun exposure
skin atrophy
malignancy
What are the cardinal features of bloom syndrome
IUGR malar hypoplasia facial telangiectasia malignancy microcephaly
What are the cardinal features of fanconi anemia
pancytopenia
hypoplastic thumb and radius
hyperpigmentation
abnormal facies
What are the cardinal features of Soto Syndrome?
AD large hands and feet LGA macrocephaly intellectual disability hypertelorism
What are the cardinal features of Beckwith-Wiedeman Syndrome
AD - Hemi hypertrophy - macroglossia Wilms tumor posterior auricular pits omphalocele
What are the cardinal features of rubinstein-Taybi syndrome
- short stature and limbs
- microcephaly
- beaked nose, broad thumbs and great toes
- heart defects
- intellectual disability
