Genetics Flashcards
- pectus excavatum
- webbed neck, low set ears, low hairline
- pulmonic stenosis, HCM
- hypertelorism, downslanting, epicanthal folds
- deeply grooved philtrum
- dev delay, MR
- high freq SNHL
- joint laxity
Noonan’s Syndrome
- webbed neck
- delayed secondary sexual characteristics
- coarctation
- short stature
- poor breast development
- short 4th and 5th metacarpal bones
- widely spaced nipples
- pedal edema
- 45XO: MC Xsome defect in spontaneous abortions
- NOT associated with advanced maternal age
Turner Syndrome
- deletion of the short arm of Chromosome 5
- high pitched cry
Cri du chat
- craniosynostosis
- syndactyly
- choanal atresia
- retardation
Apert Syndrome
- ataxia
- partial seizures
- retardation
- liver disease
Alpers Syndrome
- renal disease
- SNHL
- cataracts
Alport Syndrome
- look like old man
- photosensitive skin
- ophthalmological problems
Cockayne Syndrome
- loss of minerals in urine
- FTT
- Rickets
Fanconi Syndrome
- craniosynostosis
- high prominent forehead
- shallow orbits
- proptosis
- beak nose
- autosomal dominant
Crouzon Syndrome
- 47 XXY
- infertile
- small testes
- socially awkward
- normal intelligence
- delayed speech
- poor self image
- mild motor delay
- above average height
- cafe au lait spots
- Dx: karyotype
- Tx: testosterone
- advanced maternal age
Klinefelter Syndrome
- full translocation: 100% recurrence
- partial translocation: 15%
- no translocation: 1% (gen population) + mother’s age related risk
Risk for Trisomy 21 recurrence
Dysplasia 5th finger
Ouch! Cardiac Dz
Wide gap toes 1-2
Neck- excess skin
Spots (Brushfield-eyes) Y-protruding tongue Nice simean crease Duodenal atresia Really extensible joints Ouch! Leukemia risk Moro reflex incomplete Ears- small and anomalous
- AV canal defect
- Hirschsprung
- hypotonia & feeding problems
Physical features of Down Syndrome
-Trisomy 21 with any neurologic findings
Atlantoaxial instability
Brain (holoprosencephaly, microcephaly, scalp lesions)
Airs (low set ears)
Digits (Extra polydactyly)
Leukocytes (nuclear projections in neutrophils)
Uterus (bicornate uterus & hypoplastic ovaries)
Cleft lip and palate (bilateral)
Kidneys (cystic)
Trisomy 13
- clenched fist
- rocker bottom feet
- hypoplastic nails
- prominent occiput
- low set ears
- horseshoe kidney
- overlapping index finger over 3,4,5th digits
Trisomy 18
- ASD
- arm defects
- 3 jointed thumbs
“Hold your arm”
Holt Oram Syndrome
- self-mutilation
- MR
- choreiform movements
- incr uric acid
Lesch Nyhan Syndrome
- cafe au lait spots
- abnl bones (fibrous dysplasia)
- precocious puberty
McCune Albright
- floppy baby
- mildly retarded
- obese later in life
- small hands and testicles
- large appetite
- morbidity from Diabetes, OSA, SCFE
- deletion of dad’s Xsome 15
- maternal disomy (2 copies of 15)
Prader Willi
- obesity
- hypogonadism
- significant gynecomastia
- syndactyly
- retinal dystrophy
Lawrence Moon Biedl Syndrome
- severe developmental delay
- profound speech impairment
- ataxia/movement disorders
- frequent laughter, easy excitability, short attention span
- puppet children
- deletion of mom’s Xsome 15
- paternal disomy (2 copies of 15)
Angelman Syndrome
- hypospadias
- omphalocele
- macroglossia
- macrosomia
- hypoglycemia
- hemihypertrophy
Beckwith Wiedeman Syndrome
- hypocalcemia
- immune deficiency
- cardiac outflow abnl
- microdeletion–>FISH for Dx
DiGeorge Syndrome
- males affected
- females: carriers
- no male to male transmission
Hemophilia A/B G6PD Def Chronic Granulomatous Disease Duchenne Muscular Dystrophy Nephrogenic DI Retinitis Pigementosa Testicular feminization Wiskott Aldrich
X-linked recessive
