Genetic disordrs Flashcards
What causes turner’s syndrome?
Missing an X chromosome aka 45 X
What are the dysmorphic features of Turner’s Syndrome?
- Increased carrying angle
- Low Hairline
- Wide spaced nipples
- Sandle Gap
- Short Stature
- Lymphoedema
What congenital cardiac disease is often associated with Turner’s Syndrome?
Coarctation of the Aorta
What conditions does Turner’s predispose you to?
Hypothyroid
UTI
Osteoporosis
HTN
Summary of Turner’s Syndrome?
45,X
Increased carrying angle, low hairline, wide spaced nipples, sandle gap, short stature & lymphoedema
Coarcted Aorta
Hypothyroid
UTIs
Osteoporosis
HTN
Primary Amenorrhoea & Infertility
Can you do anything to treat Turner’s Syndrome?
Hormonal Therapy can help with some of the symptoms
What are the dysmorphic features of Down’s Syndrome?
Low Set ears Upslanted Palpebral fissures Epicanthic folds Single palmar crease Sandle Gap Flat facial profile Large fontanelle
What conditions are you more likely to develop with Down’s Syndrome?
AML Hypothyroidism Early onset Alzheimer's Coeliac Infections
What congenital defects are you born with in Trisomy 21?
AVSD
~Duodenal Atresia
Summary of Down’s Presntation?
Low ears, upward slanted palpebral fissures, epicanthic folds, single palmar crease, wide sandle gap, flat face and lage fontanelle
Babies = Hypotonia
Congenital = AVSD & Duodenal Atresia
LDs
Predisposed to: AML, hypothyroid, early alzheimers, coeliac and infection
How do we screen for Trisomy 21 in-utero?
US for Fetal Nuchal Translucency
Beta-HCG & PAPP-A
If risk >1in150:
- Chorionic Villus Sampling (10-14wks)
- Amniocentesis (>15wks)
Some genetic features are known to be associated together, What is the VATER association?
- Vertebral & VSD
- Anorectal Atresia
- Tracheo-
- Esophageal Fistula
- Radial Anomalies
What types of testing can be done for genetic disorders?
REcognise the patterns
Biochemical, chromosome structure and microarray tests
Targeted testing
Exome/genome testing
What would you test for when assessing LDs?
- Microarray
- Fragile X- this is a condition
- Targeted tests
- Exome/Genome analysis
What are the features of 22q11 deletion syndrome?
CATCH 22:
- Cardiac (Tetralogy or truncus arteriosus)
- Abnormal Facies
- Thymic Hypoplasia
- Cleft Palate
- Hypocalcaemia
How would you go about diagnosing a dysmorphic child
Head
- Microcephaly
- Macrocephaly
- Ear position
Hands
Growth of child
General features
what would you say about the eyes?
- Hypertelorism : increased distance between the pupils or the corner of the eye
- Telecanthus: distances between the corners of the eyelid increase
What is Marfan’s disease?
- AD disorder
- Associated with Fibrillin abnormality- connective tissue disorder
What is the presentation of Marfan’s and some possible complications
- Long neck
- Tall
- Long fingers: arachnodactyly
- Valve abnormalities
- Pectus excavatum/ Pectus carinatum
- Hyper mobility
Complications
- Murmur
- Scoliosis
- Joint translocation
- GORD
What is Williams syndrome?
Deletion on chromosome 7
Associated with Supra valvular stenosis
What is Noonans syndrome
AD
associated with pulmonary stenosis (congenital )
