Congenital syndromes Flashcards
Trisomy 21 is AKA?
Downs syndrome
RF of Tri-21?
Increased maternal age
Parental genetics
All children w/ down syndrome should have?
Chromosomal analysis
- if translocation present - test parents too
What age is Tri-21 much more susceptible?
35yo (1:200)
Phenotypic features of Tri-21?
Generalized hypotonia - Decreased Moro reflex
Small head
Single palmar crease
Wide - 1st toe space
Short stubby fingers (short mid-5th phalanx)
Single palmar crease is AKA?
Simian
Characteristic face of tri-21?
Up slanting palpebral fissures Epicanthal folds Flat nasal bridge (hypoplasia) Small irregular ears Macroglossia
100% of all tri-21 will have what medical complication?
MR (33% of all MR)
Tri-21 medical complications
Hearing loss Eye defects Polycythemia/Leukemia - Cardiac defects - GI defects -Thyroid disease -Skeletal instability
Tri-21 hearing loss will mostly - Sensorineural or Conductive?
Majority - sensorineural
Conductive will be dysplasia of ossicles or scarring due to RPT ear infections
Eye defects of trisomy 21?
Brushfield spots
Cataracts
Refractive errors
Strabismus (cross eyed)
Cardiac defects of tri-21?
ASD or VSD (L>R shunts) leads to >
- Pulm HTN or irreversible HF (Eisenmenger syndrome)
TXT for Tri-21 heart defects is?
Early surgical reversal for large defects
GI defects of tri-21?
Esophageal or duodenal atresia
Duodenal atresia XR will show?
Double bubble sign
Esophageal or duodenal atresia TXT is?
Immediate surgery
Skeletal defect of Tri-21?
Atlantoaxial instability
How often should hearing be eval for Tri-21?
Hearing screen Q/6mo until 3yo > Then annually
How often should eyes be eval for Tri-21?
1st exam before 6mo > then annually
When should C-spine XR be ordered for Tri-21?
By 3-5yo
Annual labs performed for Tri-21?
TSH, CBC, Celiac screen
Avg life span of tri-21?
60yrs (CHD will shorten)
MC drug induced congenital defect is?
Fetal alcohol syndrome
3 most common causes of MR?
1 - Downs syndrome (33%)
3- Fetal alcohol syndrome
RFs of FAS?
Mom >30yo
Hx binge drinkning
Low socieconomic
FAS facial features? Common
MR and Growth retardation
Short palpebral fissures (+- epicanthal folds)
Indistinct or smooth philtrum
Thin upper lip
FAS les common features?
Flat mid-face (short nose - upturned)
Underdeveloped ear (railroad track)
Ptosis
Small head/jaw
Micrognathia is?
Small mandible
Extremity defect of FAS?
Clinodactyly
Hockey stick crease - palm
Clinodactyly is?
MC 5th finger rotated in comparison to plane of hand
Cardiac defects of FAS?
ASD, VSD
Developmental defects of FAS?
MR
Fine motor delay
ADHD
FAS prevention?
Mom - referral if >7drinks/wk or multiple >3 drinks/time
Fragile X features
Moderate-severe MR
Developmental/neuro issues
Physical attributes
Developmental/neuro issues of Fragile-x?
Hyperarousal Anxiety, mood labile Stereotypy - (hand flap) Epilepsy/seizures Autism
Physical attributes of Fragile-x?
Oblong face/large ears
LRG testicles
Connective tissue laxity
Hypotonia
Dx of fragile x syndrome?
DNA amplification w/ direct analysis
TXT of fragile-x?
Genetic counseling
Special ed
Autism referral precaution
Neuro for seizures
Turner syndrome - Chromo designation?
45XO
- 50% lack X
- 25% abnl x
- 25% mosiac
Physical traits of 45XO?
Short stature
webbed neck
Shield chest (widely spaced nipples)
Triangular face
Neonates w/ 45XO may present w/?
Extremity edema
45XO mental ability is?
NL; however, poor visual/spatial skills
Good verbal skills
45XO complications?
Coarctation of aorta Bicuspid aortic valve Early HTN Amenorrhea/infertility Lack 2ndy sex characteristics Endocrine d/o
Endocrine d/o’s of 45XO?
Hpothyroidism
DM type 1
Osteoporosis
Dx of 45XO?
Direct karyotyping
TXT of 45XO?
Cardiology referral - Echo/MRI/ECG
Endo referral - GH initiation(childhood)/Estg at 14yo
Labs monitored for 45XO?
TSH, CMP, UA annually
Klinefelter syndrome Chromo designation?
47XXY
47XXY phenotypically is abnl when?
Puberty - will notice
47XXY physical traits are a result of?
Testosterone deficiency
47XXY physical traits present as?
Small testes (hypogonadism)
Infertility (semnifierous tubule fx lost)
Gynecomastia 50% / Tall feminine build (wide hips)
Decreased male hair pattern
47XXY mental capacity?
Low-normal IQ
Dx 47XXY by?
Direct karyotyping - if features seen
Barr body can screen
Hormone levels (LH, FSH, Testosterone)
47XXY hormonal lab results (high/low)?
Increased LH/FSH
Low testosterone
TXT of 47XXY?
Testosterone replacement
- infertility - harvest sperm
47XXY increases the risk of what condition considerably?
Breast cancer x16-30 of other men
Marfan syndrome is autosomal recessive or dominant?
Dominant
Marfan syndrome genetic mutation that is present?
Fibrillin 1 gene of chromo 15
Marfan syndrome features?
Dilation of aortic root > aortic dissection
Long legs - arms span exceeds hgt
Arachnodactyly (long fingers) (POS thumb or wrist sign)
Scoliosis or kyphosis
Lens dislocation (ectopia lentis)
Hypermobile joints
Dx of Marfan syndrome?
Based clinically - FISH study will confirm
Txt of Marfan syndrome?
Beta blockers
No vigorous exercise
Aortic U/S (elective aortic root replacement PRN)
2nd most common trisomy?
Tri-18
Survivability of tri-18?
1st trimester - 95% abort
<10% survive to 1yo
5% live past 1yr old
3rd most common trisomy?
Tri-13
Survivability of tri-13?
92% Fatal w/in 1st yr of life
Tri-13 common feature?
Congenital aplasia cutis - Punched out scalp lesion
Goiter present on delivery may indicate?
Inborn error of metabolism (Iodide/TSH)
Placental passage of antithyroid Rx given to mom.
TXT of congenital hypothyroidism
Levothyroxine (w/in 1st mo of life - IQ = NL)
Types of inborn errors of metabolism?
Phenyl-keton-uria
Homo-cystin-uria
Maple syrup urine disease
Hereditary fructose intolerance
Phenylketonuria is autosomial Recessive or dominant?
Recessive
Phenylketonuria is due to?
Decreased Tyrosine
- Defect in hydroxylation of phenylalanine to form tyrosine
Phenylketonuria primarily affects what organ?
Brain
Phenylketonuria mental progression from birth?
NL infant - If un-TXT = severe MR - IQ=30
Phenylketonuria Dx is made by?
Newborn screen - PKU - quantitative amino acid
TXT of Phenylketonuria?
Must TXT w/in 1st 10d to protect intelligence
- Phenylalanine diet restriction
- Modified tetrahydrobiopterin
Complication of Phenylketonuria in utero?
Maternal PKU syndrome - Increased PKU in mom
Homocystinuria is autosomal recessive or dominant?
Recessive
Homocystinuria involves what organ?
Brain
Connective tissue/vascular system
Homocystinuria is?
Cystathionine Beta-synthase deficiency
- increased Homocystieine
- increased methionine
Homocystinuria features?
Dislocated lenses Long/slender extremities and arachnodactyly Malar flushing Livedo reticularis Scoliosis Pectus excavatum or carinatum Genu valgum Thrombosis MR or psych illness
TXT for Homocystinuria is?
1st - give pyridoxine and folic acid
2nd - Methionine-restricted diet, betaine, cystine
Maple syrup urine disease is AKA?
Branched chain ketoaciduria
Maple syrup urine disease is an autosomal recessive or dominant condition?
Autosomal recessive
Maple syrup urine disease is common of what region/population?
Pennsylvania Mennonites
Maple syrup urine disease features?
Maple syrup urine odor Poor feeding Vomiting Tachypnea CNS depression
Maple syrup urine disease begins when?
W/in 1-4wks of birth
Hallmark of Maple syrup urine disease is?
Profound CNS depression
- Alternating hypo/hyper-tonia (extensor spasm)
- Opisthotonos
- seizures
Dx of Maple syrup urine disease?
Labs - elevated
- Leucine/isoleucine
- Valine
- Alloisoleucine
Txt of Maple syrup urine disease?
Leucine-restricted diet
Dialysis - during acidotic crisis
Liver transplant
Definitive TXT of Maple syrup urine disease?
Liver transplant
Complication of Maple syrup urine disease?
Kidney failure
Cerebral edema
Hereditary fructose intolerance is AKA?
Fructose-1-phosphate aldolase deficiency
F1P-aldolase deficiency causes what?
Increased F1P
Hereditary fructose intolerance presents as?
Emesis
Hypoglycemia
Severe liver/kidney disease
Hereditary fructose intolerance TXT?
Eliminate fructose and sucrose from diet