Genetic Disorders In Children

Question 0

Edwards syndrome

Answer 0

Trisomy 18
Strawberry head - small mouth, jaw, short neck, prominent occiput
Die within first few days of life
Low birth weight, low set ears, micrognathism, cleft lip/palate

Question 1

Down’s syndrome

Answer 1

Trisomy 21
Almond shaped eyes, flat face, single palmar crease, small low-set ears, large tongue, hypotonia, brushfield spots (white spots in iris)
Learning difficulties
Complications: increased risk of ALL and AML, risk of seizures, hearing loss, congenital heart disease, ophthalmic/GI/orthopaedic disorders

Question 2

Patau’s syndrome

Answer 2

Trisomy 13
Babies rarely survive more than a few weeks
Learning difficulties, micro opthalmia, low set ears, cleft lip/palate, polydactily, small head, low birth weight

Question 3

William’s syndrome

Answer 3

Deletion on chromosome 7
Extrovert, happy, puffy big blue eyes, small lips, big smile, sociable ‘elves’, mild mental retardation, approach strangers, prefer adults, cardiovascular abnormalities, anxieties and phobias
Complications: aortic stenosis, struggle to fit into regular society
Tested by FISH test

Question 4

Turner syndrome

Answer 4

Loss or abnormality of second X chromosome
Affects females: infertile
Webbed neck, puffy hands and feet, wide set nipples, failure of puberty, short, shield shaped chest, middle ear disease
Good prognosis, increased risk of obesity, hypertension and diabetes
Diagnose using chromosome studies: FISH or PCR

Question 5

Klinefelter’s syndrome

Answer 5

XXY, male eunuchism
Testosterone is deficient so FSH and LH remain unsupressed
Infertile, small firm testes, small penis, hypospadia, decreased facial hair and pubic hair, loss of libido, tall and slender, gynaecomastia, learning difficulties

Question 6

Noonan’s syndrome

Answer 6

Affects chromosome 12
Like male turners causes abnormal development of multiple parts of body
Webbing of neck and chest shape
Autosomal dominant
Pectus excavation, scoliosis, cardiac abnormalities, cubitus valgus, short stature, learning difficulties

Question 7

Fragile X

Answer 7

Tail on bottom of X chromosome, repeated CCG sequence
Behavioural, developmental and physical problem
Learning difficulties, low IQ, delayed milestones
Facial abnormalities: high forehead, facial asymmetry, large jaw, long ears, short temper
Large testicles
ADD
clumsiness

Question 8

Prader-Willi syndrome

Answer 8

Defects on chromosome 15
Hypotonia and developmental delay, obesity, thin upper lip, down turned mouth, learning difficulties
Chubby Chinese kid