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Flashcards in week 5 Deck (32)
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1

what is the cause of single malformations?

caused by a isolated event

2

how often does 22q11.2 deletion occur?

1 in 5,000

3

what are the symptoms of 22q11.2?

Can vary dramatically
Learning difficulties ~70%  just need a bit of help in school
Cleft palate ~15%  palate not working properly when its not cleft
Velopharyngeal insufficiency 32%

4

what disease are assocaited with 22q11.2?

Congenital heart defect 75%
Hypocalcaemia -->get fits associated with that
Seizures
Immune deficiency
Renal malformation
Thrombocytopenia
Hearing loss

5

what is thrombocytopenia?

a decreae in blood platelets

6

what type of immuno deficiency disease can person with 22q11.2 develop?

graves diseae and rheumatoid arthritis

7

what is achondroplasia?

It is a hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.

8

what is the reccurence rate of achondroplasia and what type of mutation is it?

1 in 20000
autosomal dominant

9

what mutation causes achondroplasia and what risk factors are there?

FGFR3 on chromosome 4 accounts for 99% of instants. Chances of passing this increase with paternal age as the mutation occurs in the sperm

10

what are the symptoms of achondroplasia

Rhizomelic limb shortening
Short stature
Foramen magnum compression/ hydrocephalus

11

what is the recurrence rate of Beckwith-Wiedemann syndrome and its signs?

large tongue, ear pits/creases

12

what can Beckwith-Wiedemann syndrome cause?

Exomphalos --> is a weakness of the baby's abdominal wall where the umbilical cord joins it.
Hemihypertrophy --> is a condition in which one side of the body or a part of one side is larger than the oth
Neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)

13

what is the most common chromosomal disorder?

down syndrome --> 1 in 800

14

what are the symptoms of down syndrome?

Learning difficulties
Congenital heart disease
Hypotonia in neonates
Single palmar cease
Have wide sandal gap
Cataracts
Hearing impairment

15

what disease can down syndrome increase your likely hood of having

Hypothyroidism
Leukaemia
Atlanto-axial instability
Alzheimer's disease

16

what is the recurrence rate of kabuki syndrome?

1 in 30000

17

what is the hallmark feature of kabuki syndrome?

eversion of the lateral 1/3rd of the lower eye lid

18

what are the symtpoms of kabuki syndrome?

Hearing impairment
Cleft palate
Premature breast development
Persistent fetal finger pads (96%)
Learning difficulties
Congenital heart disease (50%)

19

what is teh recurrence of Peutz-Jeghers syndrome?

20

with peutz jeghers syndrome what can the Gastrointestinal polyps cause?

bleeding and polyps

21

wich Peutz jeghers syndrome which maligancy are more likely to occur?

Colorectal
Gastric
Pancreatic
Breast
Ovarian

22

what is Peutz-Jeghers syndrome?

rare cancer disorder that has disphormic features

23

what is Treacher-Collins syndrome?

it is a condition that affects the development of bones and tissues in the face

24

what is the recurrence rate of Treacher-Collins syndrome and what type of mutation is it?

1 in 50000 and its autosomal dominant

25

what affect does Treacher-Collins syndrome have to the face?

underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia).
Cleft palate
Hearing impairment
coloboma
It’s also characterized by absent, small, or unusually formed ears.

26

what is the recurrence of Waardenburg syndrome?

1 in 250000

27

what are the symtpoms of Waardenburg syndrome?

Sensorineural hearing impairment
Iris heterochromia -->condition of different colored irises
Premature greying
White forelock
Areas of skin hypopigmentation --> loss of skin color
Congenital malformations (Hirschprungs/ VSD)

28

what is Hirschprungs?

it is a condition of the large intestine that causes difficult passing stool

29

what is the cause of williams syndrome and how often it occurs?

7q11 deletion --> 1 IN 20,000

30

what are the symtpoms of williams syndrome?

Learning difficulties
Unique personality characteristic and distinctive facial features
Congenital heart disease
Problem with special awareness
Hypercalcaemia
Hypertension as well