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
16
Q
VACTERR-L
A
- V - Vertebral Defects
- A - Anal atresia
- C - Cardiac defects
- TE - TE Fistula
- R - Radial Hypoplasia
- R - Renal abnormalities
- L - Limb abnormalities
17
Q
Holt Oram
A
- ASD
- Upper Limb defects
- Three-jointed thumb
18
Q
McCune-Albright
A
- Cafe au lait spots
- Fibrous Dysplasia
- Precocious puberty
19
Q
Treacher Collins
A
- AD
- Conductive Hearing Loss
- Small Jaw
- Lower Eyelid Abnormalities
- Normal IQ
20
Q
Patau - Trisomy 13
A
- Cutis aplasia
- Cleft Lip / Cleft Palate
- Cystic Kidney’s
- Low Ears
- Holoproscencephaly
- Polydactyly
21
Q
Edward’s - Trisomy 18
A
- Clenched Fist
- Rocker Bottom Feet
- Horshoe Kidney
- Low Ears
- Hypoplastic nails
- Short Sternum
22
Q
Down - Trisomy 21
A
- Non-dysjuntion vs. Translocation
- Leukemia (ALL, AML M7) + Alzheimer
- Duodenal Atresia
- AV canal
- Atlantoaxial Instability
- Brushfield Spots
- Upslanting palperbral fissures
23
Q
Cri-du-chat
A
- 5p -
- Cat-like cry
24
Q
Rett Syndrome
A
- XD
- MECP2
- Developmental Regression
- Wringing Hands
- Autistic-like
25
Lesch Nyhan Syndrome
* XR
* HGPRT
* Mental Retardation
* Elevated Uric Acid --\> Gout
* Self Mutilaion
26
Aicardi
* Macrocephaly
* Seizures (Infantile Spasms)
* Ocular Abnormalities
* Absent Corpus Callosum
27
DiGeorge (VCF)
* 22q11.2 deletion
* CATCH
* C - Cardiac Abn. (ToF)
* A - Abnormal Facies
* T - Thymus aplasia
* H - Hypocalcemia
* Immunodeficiency
* Interrupted Aortic Arch
* 3/4th Pharyngeal Pouch
28
Klinefelter's
* XXY
* Infertile
* Hypogonadism
* Socially Awkward
* Normal IQ
* Gynecomastia
29
Rubinstein-Taybi
* AD
* CREBBP
* Broad Thumb
* Cryptochidism
* Hypospadias
30
Russel-Silver
* UPD 7
* Triangle Face
* Short Stature
* Clinodactyly
* Failure to Thrive
31
Homocystinuria
* AR
* Marfanoid Habitus
* Dislocated lens (inferior)
* Skeletal Abnormalities
* Decreased IQ
* Coagulation def. / Strokes
* Treat w/ B6
32
Marfan's
* AD (Fibrillin)
* Dislocated Lens (superior)
* AR (dilatation)
* MVP
* MR
* Tall
* Pneumothoracies
* Arachnodactyly
33
Menkes Kinky Hair
* Low Serum Copper
* Low Serum Ceruloplasmin
* High Tissue Copper
34
Wilson's
* Copper Deposits
* -Liver, Basal Ganglia
* Kayser-Fleischer Rings
* Low Serum Ceruloplasmin
* Liver Bx - Diagnostic
