Congenital Syndrome DRB Flashcards
Name congenital syndrome
Increase dementia risk after 45yo
ASD in 10%
ADHD in25%
Down syndrome
Explain mecanism behind the extra chromosome content in trisomy 21
- 95% nondisjunction
- translocation
- mosaicism
Most common cause of intellectual deficiency
Down syndrome
Most common cause of inherited ID
Fragile X
Features of Down syndrome
Epicanthal folds Flat nasal bridge Single palmar crease Small ears and mouth Upward slanted palpebral fissures Excessive skin at nape of neck
Name syndrome associated with these comorbidities:
- 75% hearing loss and > 50% otitis
- mitral valve prolapse, strabismus and joint laxity
- hypoganadism, scoliosis, cryptorchidism, obesity
- 90% epilepsy
- Down syndrome
- Fragile X
- Prader-Willi
- Angelman
Name of congenital disorder:
Prominent forehead, macroorchidism, mod to sever ID in males and mild ID in females, learning disorder, ADHD 80%, OCD
Fragile X
Most common genetic cause of obesity
Prader-willi
Obesity, small hands, microorchidism, hoarding, skin picking, behavior issues
Prader-willi
Which are the congenital syndrome associated with the following:
- severe and profound ID
- moderate to severe ID
- mild-moderate ID
Severe - profound ID: Angelman, Cornelia de Lange
Severe: cri du chat
Mod to severe: Down, Fragile X, smith-Magenis, Hurler
Mild-moderate: Williams, Lesch-Nyhan
Mild: 60% of Prader-Willi, 1/3 of neurofibro
Not an important cause of ID: DiGeorge, Turner
From mild to profound: PKU, tuberous sclerosis
Dominant transmission, fair hair and blue eyes, ataxic gait, 90% epilepsy, ASD 42%
Angelman
UNI eyebrows
Hairy
Failure to thrive
Self-injury
Cornelia de Lange
Dominant transmission, elfin-like face, renal/heart/thyroid problems, hypercalcemia, hyperactive and fearful
Williams
Dominant transmission, IUGR, congenital heart disease, GI anonalies, resp/ear infections, self-injuries and hyperactivity,
laryngeal abnormality = origin of the syndrome’s name
Cri du chat
Hoarse deep voice, square face, hyperactivity, severe self-injury
Smith-Magenis
X-linked recessive, accumulation of uric acid, severe self-biting
Lesch-Nyhan
Deletion of cyclic adenosine monophosphate response element-binding protein gene, broad thumbs, prominent nose, poor concentration, language delay, happy and sociable but tantrums
Rubinstein-Taybi
Defect in phenylanine hydroxylase, recessive
Fair skin and blue eyes, sx absent when born
PKU
Dominant, most common neurocutaneus syndrome, cafe au lait spots, neurofibromas, optic gliomas, acoustic neuromas, lisch nodules, adhd, mood problems
Neurofibromatose
Mutation in TSC 1 ou 2, dominant, 2nd most common neucocutaneus syndrome, hamartomas, from normal to profound ID, autism 25-50%
Tuberous sclerosis
X linked dominant, only female, deterioration starting between 6m-1y
Rhett’s
45XO monosomy, webbed neck, cubitus valgus, gonadal dysgenesis
Turner
CATCH 22: cardiac, T-cells deficits, clefting, hypoCa
SCZ 25%, ADHD, learning disorders
DiGeorge
1/3 growth impairment 3/3 facial features: short palpebral fissures, smooth filtrum, thin upper lio 3 neurocognitive features Exposure to EtOH
FAS
