Childhood syndromes Flashcards
1
Q
Patau syndrome (trisomy 13)
A
Microcephalic, small eyes
Cleft lip / palate
Polydactyly
Scalp lesions
2
Q
Edward’s syndrome (trisomy 18)
A
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
*many similarities to Treacher-Collins syndrome - autosomal dominant so there is usually FH
A
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
6
Q
Prada-Willi syndrome
A
Hypotonia
Hypogonadism
Obesity
7
Q
William’s syndrome
A
Short stature Learning difficulties Friendly, extrovert personalities Transient neonatal hypercalcaemia Supravalvular AS