Eponymous syndromes Flashcards
1
Q
Patau Syndrome
A
Trisomy 13. Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions
2
Q
Edward’s syndrome
A
Trisomy 18. Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers
3
Q
Fragile X
A
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
4
Q
Noonan Syndrome
A
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
5
Q
Pierre-Robin syndrome
A
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
6
Q
Prader-Willi syndrome
A
Imprinting
Hypotonia
Hypogonadism
Obesity
7
Q
William’s syndrome
A
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
8
Q
Cri du chat syndrome
A
chromosome 5p deletion
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
9
Q
Turners syndrome
A
only one sex chromosome short stature webbed neck widely spaced nipple bicuspid aortic valve, coarctation amenorrhoea horseshoe kidney
10
Q
Klinefelters
A
XXY tall, lack of sexual characteristics small, firm testes infertile gynaecomastia low testosterone
11
Q
Marfan’s syndrome
A
Autosomal Dominant Dysfunction of Fibrillin Tall, long, thin pectus exacavatum/carinatum cannot fully extend elbows lungs - bulla/pneumothorax eyes - retinal detachment CV - aorta dilates, aortic valve insufficiency, dissection, aneurysm, mitral valve prolapse
