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Genetic Disorders and Congenital Syndromes

Test your knowledge of rare genetic disorders, congenital syndromes, and their associated features

15 Questions Published
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Questions

Question 1 Multiple Choice (Single Answer)

Which of the following statements about 13q deletion syndrome is/are incorrect?

  1. Congenital heart diseases are associated with 13q deletion syndrome.
  2. Deletions from 13q33 to the end of the chromosome are associated with intellectual disability.
  3. Deletions that include the 13q32 band consist of brain development gene BRCA2, and are associated with arhinencephaly.
  1. Only 1
  2. Only 2
  3. Only 3
  4. Only 1 and 2
  5. Only 2 and 3
Question 2 Multiple Choice (Single Answer)

Assertion: ABCD syndrome is a cell migration disorder of the neurocytes of the gut and sensorineural deafness.
Reason: Skin of an affected individual is albino pale besides the brown patches of mispigmented skin.

  1. A and R both are correct and R is the correct explanation of A.
  2. A and R both are correct and R is not the correct explanation of A.
  3. A is correct and R is incorrect.
  4. A is incorrect and R is correct.
  5. A and R both are incorrect.
Question 3 Multiple Choice (Single Answer)

Which of the following pairs of 'disorder - its effect' is incorrectly matched?

  1. ATR-16 syndrome - genetic disorder that causes premature fusion of the skull bones and malformations of facial, forearm and hand bones
  2. Auto-brewery syndrome - intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system
  3. Autoimmune polyendocrine syndrome - disorder that causes autoimmune activity against more than one endocrine organ
  4. Ivemark syndrome - congenital disorder that causes defects in the heart, spleen, lungs and kidneys
  5. Arterial tortuosity syndrome - congenital connective tissue condition disorder that causes elongation and generalised tortuosity of the major arteries, including the aorta
Question 4 Multiple Choice (Single Answer)

Which of the following is a genetic and endocrine syndrome that affects both genders, discloses itself in males as complete phenotypical feminisation and in females as hyperfeminisation?

  1. Antley-Bixler syndrome
  2. Apert syndrome
  3. Apparent mineralocorticoid excess syndrome
  4. AREDYLD syndrome
  5. Aromatase excess syndrome
Question 5 Multiple Choice (Single Answer)

Which of the following disorders is an autosomal recessive metabolic disorder that causes bluish urine-stained diapers in infants?

  1. Behr syndrome
  2. Drummond's syndrome
  3. Behçet-Adamantiades syndrome
  4. Barraquer-Simons syndrome
  5. Bare lymphocyte syndrome type II
Question 6 Multiple Choice (Single Answer)

Which of the following is/are autosomal recessive congenital malformation syndrome(s) involving both upper and lower extremities?

  1. Cenani-Lenz syndrome
  2. Central hypoventilation syndrome
  3. Caudal regression syndrome
  1. Only 1
  2. Only 2
  3. Only 3
  4. Only 1 and 2
  5. Only 2 and 3
Question 7 Multiple Choice (Single Answer)

Match the following:

 
List - I List - II
A. Maroteaux-Malamut syndrome 1. Cluster of facial malformations
B. Acromesomelic dysplasia 2. Rare neurological disorder
C. AIDS dysmorphic syndrome 3. Rare skeletal disorder
D. Alien hand syndrome 4. Rare congenital malformation syndrome
  1. A - 4, B - 3, C - 2, D - 1
  2. A - 4, B - 3, C - 1, D - 2
  3. A - 3, B - 1, C - 2, D - 4
  4. A - 3, B - 2, C - 1, D - 4
  5. A - 1, B - 4, C - 3, D - 2
Question 8 Multiple Choice (Single Answer)

Which of the following is an overgrowth syndrome that affects people with various symptoms?

  1. Cerebral salt-wasting syndrome
  2. Engelmann syndrome
  3. Chromosome 5q deletion syndrome
  4. Myelodysplastic syndrome
  5. CLOVES syndrome
Question 9 Multiple Choice (Single Answer)

Which of the following pairs of 'disorder - its cause' is/are incorrectly matched?

  1. Barakat syndrome - defect getting mapped to chromosome 10p
  2. Blepharophimosis, ptosis, epicanthus inversus syndrome - caused by a mutation in the gene FOXL2 that is located at band 23 on the long arm of chromosome 3
  3. Brunner syndrome - caused by mutations in the maternally and paternally-derived copies of the gene BLM
  1. Only 1
  2. Only 2
  3. Only 3
  4. Only 1 and 2
  5. Only 2 and 3
Question 10 Multiple Choice (Single Answer)

Match the following:

 
List - I List - II
A. Cockayne syndrome 1. Ritscher-Schinzel syndrome
B. Corneal-cerebellar syndrome 2. Der Kaloustian-Jarudi-Khoury syndrome
C. Cornelia de Lange syndrome 3. Neill-Dingwall syndrome
D. 3C syndrome 4. Bushy syndrome
  1. A - 1, B - 4, C - 2, D - 3
  2. A - 3, B - 4, C - 1, D - 2
  3. A - 4, B - 3, C - 2, D - 1
  4. A - 3, B - 2, C - 4, D - 1
  5. A - 2, B - 1, C - 3, D - 2
Question 11 Multiple Choice (Single Answer)

Match the following:

 
Column - I Column - II
A. CAMFAK syndrome 1. Long narrow skull, resembling a football
B. Capillary leak syndrome 2. Low birth weight and a bird-like face may be the first sign
C. Carpenter syndrome 3. Runny nose and gastro-intestinal disorders
  1. A - 1, B - 2, C - 3
  2. A - 3, B - 1, C - 2
  3. A - 2, B - 3, C - 1
  4. A - 2, B - 1, C - 3
  5. A - 3, B - 2, C - 1
Question 12 Multiple Choice (Single Answer)

Which of the following is/are long QT syndrome(s) that cause(s) the cardiac muscle to take longer than usual to recharge between beats?

P. Jervell and Lange-Nielsen syndrome
Q. Andersen-Tawil syndrome
R. Angelman syndrome

  1. Only P
  2. Only Q
  3. Only R
  4. Only P and Q
  5. Only Q and R
Question 13 Multiple Choice (Single Answer)

Which of the following is a rare autosomal recessive genetic disorder in which skull, skin, fingers, genitals, nipples and abdominal wall appear deformed?

  1. 8p23.1 duplication syndrome
  2. Shawl scrotum syndrome
  3. 3q29 microdeletion syndrome
  4. Ablepharon macrostomia syndrome
  5. 2-hydroxyglutaric aciduria
Question 14 Multiple Choice (Single Answer)

Which of the following disorders occurs due to the mutation in microsomal triglyceride transfer protein that results in scarcities in the apolipoproteins B-48 and B-100?

  1. Bassen-Kornzweig syndrome
  2. ABCD syndrome
  3. Horn-Kolb syndrome
  4. Achondroplasia
  5. Acrocallosal syndrome
Question 15 Multiple Choice (Single Answer)

Which of the following is a ciliopathic human genetic disorder that causes excess body fat accumulation, retinitis pigmentosa, hyperdactyly, hypogonadism and kidney failure?

  1. Bardet-Biedl syndrome
  2. Alagille syndrome
  3. Adipsia syndrome
  4. Christian syndrome
  5. Adams-Oliver syndrome
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