Childhood Syndromes Flashcards by Stephen Wellington

Q

Learning difficulties

Macrocephaly

Long face

Large ears

Macro-orchidism

A

Fragile X Syndrome

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Q

What trisomy is Patau syndrome?

A

Trisomy 13

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Q

Microganthia (Small jaw)

Low-set ears

Rocker bottom feet

Overlapping of fingers

A

Edward’s Syndrome

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Q

What trisomy is Edward’s Syndrome?

A

Trisomy 18

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Q

Micrognathia (small jaw)

Posterior displacement of the tongue

Cleft palate

A

Pierre-Robin Syndrome

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Q

Microcephalic, small eyes.
Cleft lip/palate
Pilytdactyly
Scalp lesions

A

Patau Syndrome.

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Q

Short stature

Learning difficulties

Friendly, extrovert personality

Transient neonatal hypercalcaemia

Supravalvular aortic stenosis

A

William’s Syndrome

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Q

Hypotonia
Hypogonadism
Obesity
Strabismus
Cryptoorchidism.
Thin Upper lip

A

Prader-Willi Syndrome

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Q

Jerky movements (Hand flapping)

Frequent laughter or smiling.

“Happy puppet syndrome”

Ataxic gait.

Speech impairment

A

Angelman Syndrome

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Q

Webbed neck

Pectus excavatum

Short stature

Pulmonary stenosis

A

Noonan Syndrome

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