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
Q
Lesch Nyhan Syndrome
A
- XR
- HGPRT
- Mental Retardation
- Elevated Uric Acid –> Gout
- Self Mutilaion
26
Q
Aicardi
A
- Macrocephaly
- Seizures (Infantile Spasms)
- Ocular Abnormalities
- Absent Corpus Callosum
27
Q
DiGeorge (VCF)
A
- 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
Q
Klinefelter’s
A
- XXY
- Infertile
- Hypogonadism
- Socially Awkward
- Normal IQ
- Gynecomastia
29
Q
Rubinstein-Taybi
A
- AD
- CREBBP
- Broad Thumb
- Cryptochidism
- Hypospadias
30
Q
Russel-Silver
A
- UPD 7
- Triangle Face
- Short Stature
- Clinodactyly
- Failure to Thrive
31
Q
Homocystinuria
A
- AR
- Marfanoid Habitus
- Dislocated lens (inferior)
- Skeletal Abnormalities
- Decreased IQ
- Coagulation def. / Strokes
- Treat w/ B6
32
Q
Marfan’s
A
- AD (Fibrillin)
- Dislocated Lens (superior)
- AR (dilatation)
- MVP
- MR
- Tall
- Pneumothoracies
- Arachnodactyly
33
Q
Menkes Kinky Hair
A
- Low Serum Copper
- Low Serum Ceruloplasmin
- High Tissue Copper
34
Q
Wilson’s
A
- Copper Deposits
- -Liver, Basal Ganglia
- Kayser-Fleischer Rings
- Low Serum Ceruloplasmin
- Liver Bx - Diagnostic
