Genetic Syndromes Flashcards
1
Q
Achondroplasia
A
- Most Common cause of Dwarfism
- A/w Advanced Paternal Age
- AD
- FGFR3 - Fibroblast Growth Factor Receptor 3
- Chromosome 4
- Chondroblast Cartilage production
- Defective Endochondrial Ossification of Long bones
- Big Head - Short Extremities
- Rhizomelic Shortening
- Lumbar Lordosis
2
Q
Pierre-Robin Sequence
A
- Micrognathic Jaw
- Cleft Palate
- Normal Tongue size
- 35% –> Stickler Syndrome
3
Q
Prader-Willi
A
- Chromosome 15 (PAPA)
- Uniparental disomy (UPD) or Imprinting
- Failure To Thrive as Inflant (Floppy Baby)
- Obese as Child
- Small Hands
- Hypogonadism
4
Q
Angelman’s
A
- Chromosome 15 (Mom)
- UPD vs Imprint vs AD
- Intellectual Disability
- “Happy Puppet”
- Seizures
5
Q
Hurler’s
A
- AR
- Coarse Facies
- Corneal Clouding
- Thick Skulls
- “Gargoylism”
6
Q
Hunter’s
A
- XR
- Coarce Facies
- No Corneal Clouding
7
Q
Turner
A
- 45, X Mosaicism
- Short Stature
- Webbed neck
- Short 4th / 5th metacarpal
- Pedal edema in newborn females
8
Q
Noonan Syndrome
A
- AD
- PTPN11 deletion
- Pectus Excavatum
- Webbed Neck
- Low-set Ears
- Pulmonic Stenosis
- Male
- Developmental delay
9
Q
William’s
A
- AD
- Elfin Facies
- Wide-spaced teeth
- Upturned nose
- Supravalvular Aortic Stenosis
- Hypercalcemia in Infancy
10
Q
Ehlers-Danlos
A
- AD
- Hypermobile joints
- Skin stretches
- Berry aneurysms
11
Q
Fragile X
A
- XR
- CGG repeats
- # 1 inherited form of MR
- Macrotestis
- Large Ears
12
Q
Sturge-Weber
A
- Port-wine Stain
- Seizures
- Glaucoma
- Hemiplegia
- Developmental Delay
13
Q
Apert’s
A
- AD
- Stocking-glove deformity
- Carniosynostosis
- Syndactyly
- MR
14
Q
Crouzon’s
A
- Craniofacial dysostosis
- Proptosis
- Beak nose
- NO Syndactyly
15
Q
CHARGE
A
- C - Coloboma
- H - Heart Disease
- A - Atresia choanae
- R - Retarded Growth and Development
- G - GU abnormalities
- E - Ear Anomalies
