childhood genetic disorders Flashcards by nafshe en | Brainscape

Q

Patau syndrome (trisomy 13)

A

Microcephalic, small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

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Q

Edward’s syndrome (trisomy 18)

A

Micrognathia

Low-set ears

Rocker bottom feet

Overlapping of fingers

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Q

Fragile X

A

Learning difficulties

Macrocephaly

Long face

Large ears

Macro-orchidism

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Q

Noonan syndrome

A

Webbed neck

Pectus excavatum

Short stature

Pulmonary stenosis

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Q

Prader-Willi syndrome

A

Hypotonia

Hypogonadism

Obesity

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Q

William’s syndrome

deletion of chr 7

A

Short stature

Learning difficulties

Friendly, extrovert personality

Transient neonatal
hypercalcaemia

Supravalvular aortic stenosis

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