Dysmorphology

Question 1

What is Dysmorphology?

Answer 1

Study of structure and form of either animals or plants mainly facial features

Question 2

What life stage is the best for diagnosis?

Answer 2

Childhood (not babies or adults)

Question 3

What makes a congenital malformation more likely to be genetic?

Answer 3

Multiple malformations, dysmorphic features and family history

Question 4

Most common problem seen in 22q11.2 deletion?

Answer 4

Congenital heart defect

Question 5

Hypocalcaemia, seizures renal malformation and immune deficiency are characteristic of what?

Answer 5

22q11.2 deletion

Question 6

22q11.2 deletion approx occurrence rate?

Answer 6

~1/5k

Question 7

The risk of Achondroplasia increases with what?

Answer 7

Paternal age

Question 8

What are the main features of Achondroplasia?

Answer 8

Rhizomelic limb shortening
Short stature
Foramen magnum compression and hydrocephalus

Question 9

Occurrence rate for Achondroplasia?

Answer 9

~1/20k

Question 10

Occurrence of Beckwith Wiedemann syndrome?

Answer 10

~1/10k

Question 11

Large tongue, ear pits and creases, exomphalos and hypoglycaemia(neonatal) characteristic of what?

Answer 11

Beckwith Wiedemann syndrome

Question 12

What is the most common chromosomal disorder?

Answer 12

Down’s Syndrome

Question 13

What percentage of the normal population have a single unilateral palmar crease? (Bilateral?)

Answer 13

4% Uni

1% Bi

Question 14

Occurrence of kabuki syndrome?

Answer 14

~1/30k

Question 15

What is the most common phenotype in Kabuki syndrome?

Answer 15

Persistent foetal finger pads (96%)

Question 16

General symptoms of Kabuki syndrome?

Answer 16

Cleft palate
Congenital heart
Poor growth
Premature breasts

Question 17

What skin changes can mosaicism cause?

Answer 17

Hypo and Hyper pigmented patches

Question 18

What are lines of Blaschko?

Answer 18

Normally invisible lines of skin cell development, can be come visible in hyper or hypo-pigmentation assosciated with genetic mosaicsim

Question 19

Occurrence of Peutz-Jeghers syndrome?

Question 20

Peutz-Jeghers also know as?

Answer 20

Herditary intestinal polyposis syndrome

Question 21

Main cancer risks for Peut-Jeghers/

Answer 21

Colorectal, Gastric, Pancreatic

Breast, ovarian

Question 22

Occurrence of Treacher-Collins syndrome?

Answer 22

~1/50K

Question 23

Inheritance of Treacher-Collins?

Answer 23

Autosomal Dominant

Question 24

Main issues of Treacher-Collins?

Answer 24

Very variable things, but mainly cleft palate and hearing impairment

Question 25

Occurence of Waardenburg syndrome?

Answer 25

Very rare! ~1/250K

Question 26

Waardenburg syndrome symptoms?

Answer 26

Sensoneural deafness, heterochromia, greying, malformations (hirschprungs VSD), White forelock

Question 27

Rare genetic disorder which causes multiple pigmentation anomalies?

Answer 27

Waardenburg

Question 28

Williams syndrome is a deletion where?

Answer 28

7q11

Question 29

William’s syndrome is often associated with what speech problem?

Answer 29

Cocktail party speech

Question 30

Hypercalcaemia is associated with which syndrome?

Answer 30

William’s syndrome

Question 31

Occurrence rate of William’s syndrome?

Answer 31

~1/20K