Childhood Syndromes Flashcards
Patau syndrome (trisomy 13) (4)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Microcephalic, small eyes
Patau syndrome (trisomy 13)
Cleft lip/palate (2)
Patau syndrome (trisomy 13) Pierre robin syndrome
Polydactyly
Patau syndrome (trisomy 13)
Edwards syndrome (trisomy 18) (4)
Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers
Micrognathia (3)
Edwards syndrome (trisomy 18)
Pierre robin syndrome
Cri du chat syndrome
Low set ears (2)
Edwards syndrome (trisomy 18) Down’s syndrome
Rocker bottom feet
Edwards syndrome (trisomy 18)
Overlapping fingers
Edwards syndrome (trisomy 18)
Fragile X (6)
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
Learning difficulties (4)
Fragile X
Williams syndrome
Cri du chat syndrome
Down’s syndrome
Macrocephaly
Fragile X
Long face
Fragile X
Large ears
Fragile X
Macro orchidism
Fragile X
Down’s syndrome (trisomy 21)
Upslanting palpebral fissures Epicanthic folds Brushfield spots in iris Protruding tongue Low set ears Round/flat face Flat occiput Single palmar crease Hypotonia Duodenal atresia Hirschprungs disease Short stature Atlantoaxial instability
Down’s syndrome cardiac issues (5)
Endocardial cushion defect VSD ASD TOF PDA
Noonan syndrome (4)
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Webbed neck (2)
Noonan syndrome
Turner syndrome
Pectus excavatum
Noonan syndrome
Short stature (4)
Noonan syndrome
Down’s syndrome
Williams syndrome
Turner syndrome
Pulmonary stenosis
Noonan syndrome
Pierre robin syndrome (3)
Micrognathia
Posterior displacement of tongue
Cleft palate
Posterior displacement of tongue
Pierre robin syndrome
Prader wili syndrome (3)
Hypotonia
Hypogonadism
Obesity
Hypotonia (2)
Prader wili syndrome
Down’s syndrome
Hypogonadism
Prader wili syndrome
Obesity
Prader wili syndrome
Turner syndrome (6)
Short stature Shield chest, widely spaced nipples Webbed neck Bicuspid aortic valve Coarctation of aorta Primary amenorrhea
Shield chest, widely spaced nipples
Turner
Bicuspid aortic valve
Coarctation of aorta
Turner
Primary amenorrhea
Turner
Williams syndrome (5)
Short stature Learning difficulties Friendly, extroverted personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
Friendly, extroverted personality
Williams
Transient neonatal hypercalcaemia
Williams
Supravalvular aortic stenosis
Williams
Cri du chat syndrome (5)
Characteristic cry Feeding difficulties Learning difficulties Microcephaly Micrognathism
Characteristic cry
Cri du chat syndrome
Feeding difficulties
Cri du chat syndrome
Microcephaly
Cri du chat syndrome
