Syndromes

Question 1

What are the key features seen in Patau syndrome?

Answer 1

microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions

Question 2

What are the key features seen in Edward’s syndrome?

Answer 2

micrognathia, low-set ears, rocker bottom feet, overlapping fingers

Question 3

What are the key features seen in fragile X syndrome?

Answer 3

learning difficulties, macrocephaly, long face, large ears, macro-orchidism

Question 4

What are the key features seen in Noonan syndrome?

Answer 4

webbed neck, pectus excavatum, short stature and pulmonary stenosis

Question 5

What are the key features seen in Pierre-Robin syndrome?

Answer 5

micrognathia, posterior displacement of the tongue, cleft palate

Question 6

What are the key features seen in Prader-Willi syndrome?

Answer 6

hypotonia, hypogonadism, obesity