Paeds Genetic Conditions Flashcards
1
Q
Patau Syndrome
A
Microcephaly Small eyes Cleft lip/palate Polydactyly Scalp lesions
2
Q
Edward’s syndrome
A
Micrognathia
Low set ears
Rocker bottom feet
Overlapping 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
Prader-Willi syndrome
A
Hypotonia
Hypogonadism
Obesity
6
Q
Williams syndrome
A
Short stature Learning difficulties Friendly personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
