Syndromes Flashcards
1
Q
Patau 13
A
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
2
Q
Edwards 18
A
royal chin
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
3
Q
Fragile X
A
big + long
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
4
Q
Noonan
A
no neck
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
A
Hypotonia
Hypogonadism
Obesity
7
Q
William
A
prince is Friendly, extrovert personality
Short stature
Learning difficulties
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
8
Q
Cri du chat 5p
A
cry
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
