Genetics Flashcards
1
Q
Turner syndrome
A
Webbed neck Delayed secondary sexual characteristics Coarctation of the aorta (rt sided lesions) Short stature Poor breast development Short 4th, 5th metacarpals Widely spaced nipples Pedal edema
2
Q
Noonan syndrome
A
Hypertelorism Strabismus, amblyopia Low set, posteriorly rotated ears High frequency SNHL Inverted triangular facies Short, webbed neck Pulmonary stenosis Hypertrophic cardiomyopathy Pectus carinatum, inferior excavatum Cryptorchidism
3
Q
Cri du Chat syndrome
A
5p deletion
4
Q
Apert syndrome
A
Craniosynostosis
Syndactyly
Choanal atresia
Retardation
5
Q
Alpers syndrome
A
Ataxia
Partial seizures
Retardation
Liver disease
6
Q
Alport syndrome
A
Renal disease
SNHL
Cataracts
7
Q
Fanconi syndrome
A
Kidneys
8
Q
Crouzon syndrome
A
Craniofacial dysotosis
Prominent forehead, eyes
Autosomal dominant
9
Q
Klinefelter syndrome
A
Delayed speech
Mild motor delay
Infertile, small testes
10
Q
Trisomy 21
A
Risk 1% + maternal risk
Full translocation 100%, partial 15%
MC hypotonia Dysplasia of the middle phalanx of 5th finger Cardiac - AV canal defect Wide gap between 1st, 2nd toe Neck with excess skin Brushfield spots Duodenal atresia Leukemia Atlantoaxial instability
11
Q
Trisomy 13
A
Aplasia cutis (punched out skin lesions) Holoprosencephaly, microcephaly Low set ears Polydactyly Bicornate uterus, hypoplastic ovaries Bilateral cleft lip/palate Cystic kidneys
12
Q
Trisomy18
A
Clenched fist Rocker bottom feet Hypoplastic nails Horseshoe kidneys Prominent occiput, low set ears
13
Q
Holt Oram syndrome
A
ASD
Upper limb defects - 3 jointed thumb
14
Q
Lesch Nyhan syndrome
A
Retardation
Self-mutilation
Choreiform movements
Elevated uric acid
15
Q
McCune Albright syndrome
A
Cafe au lait spots
Fibrous dysplasia
Precocious puberty
16
Q
Prader Willi syndrome
A
Deletion in paternal 15, maternal disomy
Floppy baby Retardation Obesity Talks a lot with little content Small testicles and hands Large appetite
17
Q
Laurence Moon Biedl syndrome
A
Autosomal recessive
Retardation, obesity (like Prader Willi) + Retinal dystrophy Syndactyly Hypogonadism Gynecomastia
18
Q
Angelman syndrome
A
Deletion maternal 15, paternal disomy
"Happy puppet" Severe developmental delay Ataxia Short attention span Microcephaly Seizures
19
Q
Beckwith Wiedeman syndrome
A
Hypospadias Omphalocele Macroglossia Macrosomia Hypoglycemia Hemihypertrophy
20
Q
DiGeorge syndrome: CATCH 22
A
Microdeletion, FISH 22q deletion
Cardiac defects Abnormal face Thymic hypoplasia Cleft palate Hypocalcemia - parathyroid deficiency
21
Q
X Linked Recessive
A
Enzyme deficiency
Hemophilia G6PD deficiency Chronic Granulomatous Disease Duchenne Muscular Dystrophy Nephrogenic Diabtes Insipidus Retinitis Pigmentosa Testicular feminization Wiscott Aldrich syndrome
22
Q
X Linked Dominant
A
Fathers to daughters, not to sons
Vitamin D resistant rickets
Pseudohyperparathyroidism
Aicardi syndrome
Alport syndrome
23
Q
Autosomal Dominant
A
Tuberous Sclerosis Achindroplasia Retinoblastoma Marfan syndrome Apert syndrome Nail patella syndrome Neurofibromatosis Prophyrias Waardenburg syndrome Huntington's syndrome Peutz Jeghers syndrome Von Willebrand disease Gardner syndrome
24
Q
Aicardi syndrome
A
Macrocephaly
Seizures
Ocular abnormalities
Absence of the corpus callosum
25
Autosomal Recessive
```
Galactosemia
Alpha 1 Antitrysin deficiency
Sickle Cell Disease
Thalassemia
Hurler syndrome
Ataxia Telangiectasia
Tach Sachs disease
Wilson disease
Adrenogenital syndrome
Alpers syndrome
Kartagener syndrome
PKU
```
26
Fetal Alcohol Syndrome
```
Flat philtrum
Thin upper lip
Small 5th fingernail
Midface hypoplasia
Short palpebral fissures
```
27
Phenytoin
Anticonvulsants: cardiac, cleft lip, hypospadias, cryptorchidism, clubfoot
Finger stiffness, severe nail hypoplasia
Skeletal abnormalities
Ophthalmologic anomalies
28
Carbamazepine
Anticonvulsants: cardiac, cleft lip, hypospadias, cryptorchidism, clubfoot
Spina bifida
29
Lithium
Ebstein's anomaly
30
Isotretinoin
```
Microcephaly
Microphthalmia
Hypoplastic ears
Truncus arteriosis
Absent thymus
```
31
Warfarin
Depressed nasal bridge
Short nose
Hypoplastic distal phalanges
Stippled epiphyses
32
ACE inhibitors
Anuria
Oligohydramnios
Skull hypoplasia
Fetal hypotension
33
CHARGE syndrome
```
Coloboma/cognitive defects
Heart defects
Atresia (choanal)
Retarded growth, development
GU abnormalities (genital hypoplasia)
Ear abnormalities (hearing loss)
```
34
VACTERL syndrome
```
Vertebral defects
Anal atresia
Cardiac defects/VSD
TE fistula
Radial hypoplasia, renal abnormalities
Limb abnormalities
```
Single umbilical artery
Normal intelligence
35
Potter syndrome
Oligohydramnios
Clubfeet
Pulmonary hypoplasia
Amnion nodosum (fetal membranes, yellow nodules)
36
Rubinstein Taybi syndrome
Broad thumb
| Cryptorchidism
37
Pfeiffer syndrome
"Crouzon + Rubinstein Taybi"
Short, broad thumbs & great toes
Prominent, widely spaced eyes
38
Prune Belly syndrome
```
Lack of abdominal musculature
Bladder outlet obstruction
Oligohydramnios
Pulmonary hypoplasia
Undescended testicles
```
39
Russell Silver syndrome
Triangle face
| Growth retardation
40
Treacher Collins syndrome
Autosomal dominant
Conductive hearing loss
Small jaw
Ear, lower eyelid abnormalities
Normal intelligence
41
Achondroplasia
Autosomal dominant
```
Large head
Short extremities (rhizomelic = proximal)
Frontal bossing
Lumbar lordosis
Nerve root compression
Sleep apnea
```
42
Hurler syndrome
Mucopolysaccharidoses type 1
Autosomal recessive
```
Coarse facial features
Corneal clouding
Thick skull
Hepatosplenomegaly
Progressive deafness
```
43
Hunter syndrome
Mucolysaccharidoses type 2
X linked
Coarse facial features
Short, skeletal abormalities
Hepatosplenomegaly
Progressive deafness
44
Williams syndrome
Elfin facies - upturned nose, wide spaced teeth
Supravalvular aortic stenosis
Hypercalcemia
45
Fragile X syndrome
MC inherited mental retardation
DNA testing - CGG repeats
Long face, large ears
Mild retardation
Macroorchidism
46
Rett syndrome
Girls 1-2 yo
MECP2
Autistic like behavior
Hand wringing
Regression of developmental milestones
Hyperventilation
47
Peutz Jegher syndrme
Autosomal dominant
Mucosal pigmentation of lips, gums
Hamartomatous polyps of intestines
Tx: removal of polyps
48
Pierre Robin syndrome
Micrognathia
Glossoptosis, posterior tongue position
Cleft palate
```
Otitis media, ear abormalities
Cor pulmonale
Syndactyly, clinodactyly
Spinal deformities
Developmental delay, seizures
```
49
Sturge Webber syndrome
```
Port wine stain
Developmental delay
Seizure
Hemiplegia
Glaucoma
```
50
WAGR
Wilms tumor
Aniridia
GU abnormalities
Mental retardation
51
Hemihypertrophy & Aniridia
WAGR syndrome
Wilms tumor
Beckwith Wiedemann
Russell silver
52
Werdnig Hoffman syndrome
| SMA type 1
Tongue fasciculations
Absent DTRs
Hypotonia, poor suck
53
Cornelia de Lange
```
Low anterior hairline
Synophrys
Anteverted nostrils
Microcephaly
Micromelia
Micrognathia
```
