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
- fathers give to ALL daughters
- no sons will be affected by dad
- mom passes onto 50% of children
Vit D resistant Rickets
Pseudohypoparathyroidism
Aicardi syndrome
Alport syndrome
X linked Dominant
- macrocephaly
- seizures
- ocular abnl
- abscence of corpus callosum
- X-linked DOMINANT
Aicardi Syndrome
-can be transmitted from father to son
-variable expressivity
-reduced penetrance
Tuberous Sclerosis
Achondroplasia
Retinoblastoma
Marfan
Alpert, All Porphyrias
Neurofibromatosis/Nail patella
Waardenburg
Huntingtons
Peutz-Jeghers
VonWillebrand
Gardner
Autosomal Dominant
Galactosemia
Alpha 1 antitrypsin deficiency
Sickle Cell/thalassemia
Hurler
Ataxia telangectasia
Tay Sachs
Wilson disease
Androgenital Syndrome/Alpers Syndrome
Kartageners
+PKU
Autosomal recessive disorders
- best test to predict fetal lung maturity
- absent prior to 35 weeks
phosphatidylglycerol
- prenatal and postnatal growth delay
- developmental delay
- flat philtrum
- thin upper lip
- midface hypoplasia
- short palpebral fissures
- small 5th fingernail
Fetal Alcohol Syndrome
- microcephaly
- IUGR
- facial abnl (broad nose, anteverted nostrils, long upper lip)
- fingernail hypoplasia
- cardiac defects
- cleft lip, hypospadias
- cryptorchidism
- club feet
prenatal antiepileptic exposure
Drug that causes:
- spinal problems
- facial deformities
Carbamazepine
Drug that causes:
- finger stiffness
- severe nail hypoplasia
- cardiac, skeletal, and ophtho anomalies
Phenytoin
-AED associated with NTDs
Valproic acid
- Drug associated with:
- Ebstein’s anomaly during pregnancy
Lithium
Drug associated with:
- microcephaly
- microphthalmia
- hypoplastic ears
- truncus arteriousus
- absent thymus
Isotretinoin
Drug associated with:
- depressed nasal bridge
- short nose
- hypoplastic distal phalanges
- stippled epiphysis
Warfarin
Drug associated with:
- anuria
- oligo
- skull hypoplasia
- fetal hypotension
ACE inhibitors
Coloboma Heart Dz Atresia (choanal) Retarded growth and development GU abnl (genital hypoplasia) Ear abnl (hearing loss)
CHARGE assocociation
Vertebral defects Anal atresia Cadiac (VSD) TE fistula Radial hypoplasia/ Ranl probs Limb abnl **single umbilical artery normal intelligence
VACTERL
- club feet
- pulmonary hypoplasia
- glove-like excess skin
- yellowish nodules
- oligohydramnios
- w/u: RUS for GU abnl
Potter Syndrome
- broad thumb
- cryptorchidism
Rubinstein-Taybi Syndrome (Thumby)
- short broad thumb and toes
- prominent widely spaced eyes
Pfeiffer Syndrome
- triangle face (small chin)
- growth retardation
Russell Silver Syndrome
- bladder outlet obstruction
- oligo
- pulm hypoplasia
- undescended testes
- lack of abdominal musculature
Prune Belly (Eagle Barrett)
- conductive hearing loss
- small jaw
- ear abnl
- lower eyelid abnl
- normal intelligence
- dominant trait (one or more family members with hearing aid)
Treacher Collins
- seizures
- mental retardation
Tuberous Sclerosis
- large heads
- very short extremities
- frontal bossing
- lumbar lordosis (nerve root compression)
- OSA
- normal intelligence
Achondroplasia
- large heads
- very short extremities
- frontal bossing
- lumbar lordosis (nerve root compression)
- OSA
- normal intelligence
Achondroplasia
- mucopolysaccharidoses Type 1
- coarse facies
- corneal clouding
- thick skulls
- HSM
- progressive deafness
Hurler Syndrome
- X-linked
- short with skeletal abnl
- HSM
- progressive deafness
Hunter Syndrome
- elfin facies
- widespaced teeth
- upturned nose
- mild retardation
- incr Ca
- supravalvular aortic stenosis
Williams Syndrome
- MC Xsomal cause of MR
- males usually
- mildly retarded
- h/o weird uncles
- long face
- large ears
- macrorchidism
- Dx: DNA testing better than karyotype
Fragile X Syndrome
- girl about 1-2 yo
- loss of developmental milestone
- autistic-like behavior
- wringing hands
- decr HC
Rett Syndrome
- pointed nose
- bird-like facies/small eyes
- small teeth
Hallerman Streiff Syndrome
- mucosal penetration of lips and gums
- harmatomatous polyps of the intestine
- Tx: removal of polyps
- Autosomal Dominant
Peutz-Jeghers Syndrome
- small chin
- cleft palate
- micrognathia
- glossoptosis
- syndactyly
- clinodactyly
- hip/knee abnl
- kyphosis/scoliosis
- CNS: seizures, DD
- cor pulmonale
Pierre Robin Sequence
- port wine stain
- dev delay
- seizures
- hemiplegia
- vision probs/calcifcation
- glaucoma
- Tx: referral to ophtho
Sturge Weber
- small growth parameters
- dev delay
- truncal unsteadiness
- midline hand behaviors
- seizures
- X-linked dominant
Rett Syndrome
- plateaued mental status
- recurrent otitis and snoring
- bony changes, joint contractures
- HSM and umbilical hernias
- incr glycosaminoglycans
Mucopolysaccharidoses
