Genetic Conditions and Eponynous Syndromes

Question 1

Gerstmann’s syndrome

Answer 1

Agraphia, acalculia, finger agnosia, left-right disorientation.

Dominant parietal lobe at angular gyrus.

Question 2

Balint’s syndrome

Answer 2

Inability to direct eyes to certain point in visual field (intact vision and motor function).

Bilateral parieto-occipital cortex.

Question 3

Anton’s syndrome

Answer 3

Form of cortical blindness with denial of blindness and confabulation.

Bilateral occipital cortex.

Question 4

Kluver-Bucy syndrome

Answer 4

Blunted affect, apathy/docility, visual agnosia, hyperorality and hypersexuality.

Bilateral medial temporal lobe.

Question 5

Weber’s syndrome

Answer 5

Ipsilateral 3rd nerve palsy with contralateral hemiplegia.

Midbrain lesion (supplied by paramedian branches of basilar artery).

Question 6

Kleine-Levin syndrome

Answer 6

Intermittent hypersomnolance, hyperphagia and cognitive disturbance.

Question 7

Lesch-Nyhan syndrome

Answer 7

Xq26-27 (recessive)

Overproduction and accumulation of uric acid. Leads to self-injury and immobility.

Question 8

Marchiafava-Bignami disease

Answer 8

Progressive demyelination and necrosis of corpus callosum in those with alcoholism and malnutrition. Presents with dementia, spasticity, dysarthria, inability to walk. Unpredictable course.

Question 9

Down’s Syndrome

Answer 9

Trisomy 21.

Short stature, simian crease, almond shaped eyes due to epicanthic folds, upslanting palpebral fissures, low set ears, brushfield spots, and poor muscle tone.

Question 10

Angelman Syndrome

Answer 10

15q11 maternal origin

“Happy puppet”. Flapping hand movements, ataxia, pronounced verbal delay, serveve to profound learning disability, seizures and sleep problems

Question 11

Prader-Willi Syndrome

Answer 11

15q11 paternal origin

Hyperphagia, excessive weight gain, short stature, frequent skin picking, mild learning disability, small gonads, and hypotonia

Question 12

Cri du Chat

Answer 12

5p deletion

Characteristic cry like a meowing kitten, hypotonia, hypertelorism, a down-turned mouth, and microcephaly

Question 13

Velocardiofacial syndrome (Di George syndrome)

Answer 13

22q deletion

Cleft palate, cardiac problems, and learning disabilities. A higher rate of psychiatric disorders is also seen

Question 14

Edward’s Syndrome

Answer 14

Trisomy 18

Kidney malformations, upturned nose, webbing of second and third toes, and clubbed feet (rocker bottom)

Question 15

Smith-Magenis syndrome

Answer 15

17p11

Pronounced self injurious behaviour, self hugging, and a hoarse voice

Question 16

Fragile X

Answer 16

X-linked dominant, CGG repeat

Elongated face, large ears, large testicles, hand flapping, shyness, and little eye contact

Question 17

Wolf Hirschhorn syndrome

Answer 17

4p

Profound mental retardation, microcephaly, seizures, down turned fishlike mouth, Greek warrior helmet face, and cleft lip

Question 18

Patau Syndrome

Answer 18

Trisomy 13

Mental retardation, polydactyly, microcephaly, overlapping of fingers over thumb

Question 19

Rett Syndrome

Answer 19

Xq28. X-linked dominant.

Normal for the first 12 months. Regression and loss of skills from around 18 months onwards. Hand-wringing movements are the most common feature. Associated learning disability is profound. Affects girls almost exclusively

Question 20

Tuberous Sclerosis

Answer 20

9q34 and 16p13.3. Autosomal dominant

Hamartomatous tumours affect various organs including the brain. 80% suffer with epilepsy. Autism, ADHD, and sleep problems are common

Question 21

William’s Syndrome

Answer 21

7q11 deletion

Elfin like features, social disinhibition, and abnormal friendliness towards strangers. Very sensitive hearing, cocktail party speech.

Question 22

Rubinstein-Taybi syndrome

Answer 22

Unclear, 16p deletions have been reported

Tend to be short with small heads. Associated with a friendly disposition and moderate learning disability

Question 23

Klinefelter’s Syndrome

Answer 23

47 XXY

Tend to be tall with small testicles. Typically introverted with poor social and school performance

Question 24

Jacob’s Syndrome

Answer 24

47 XYY

Tend to be tall. Sexual development is normal. Tend to have lower mean intelligence.

Question 25

Coffin-Lowry Syndrome

Answer 25

Xp22 - dominant

Short stature, slanting eyes with short broad nose. Severe learning difficulty

Question 26

Turner Syndrome

Answer 26

45 X0

Short stature, webbed neck, widely spaced nipples

Question 27

Niemann Pick disease (types A and B)

Answer 27

11p15

Abdominal swelling, cherry red spot, feeding difficulties

Question 28

Acute Intermittent Porphyria

Answer 28

11q23

Autosomal dominant. GI upset; polyneuropathy; hypertension and tachycardia; depression, anxiety and psychosis.

Question 29

Huntingdon’s disease

Answer 29

4p16.3, CAG repeat

Autosomal dominant. Progressive chorea and dementia.

Question 30

Phenylketonuria

Answer 30

12q22–24

Autosomal recessive. Learning disability; hypopigmentation of skin, hair and eyes; microcephaly; seizures.

Question 31

Wilson’s disease

Answer 31

13q14.3. Autosomal recessive

Liver disease in children; tremor, dysarthria, involuntary movements and dementia in adults; Kayser–Fleischer rings in the eyes.